ENSMUSG00000024413


Mus musculus

Features
Gene ID: ENSMUSG00000024413
  
Biological name :Npc1
  
Synonyms : Niemann-Pick C1 protein / Npc1 / O35604
  
Possible biological names infered from orthology : NPC intracellular cholesterol transporter 1 / O15118
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: A1
Gene start: 12189693
Gene end: 12236400
  
Corresponding Affymetrix probe sets: 10457508 (MoGene1.0st)   1423086_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025279
NCBI entrez gene - 18145     See in Manteia.
MGI - MGI:1097712
RefSeq - NM_008720
RefSeq - XM_017317849
RefSeq Peptide - NP_032746
swissprot - O35604
Ensembl - ENSMUSG00000024413
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 npc1ENSDARG00000017180Danio rerio
 NPC1ENSGALG00000015030Gallus gallus
 NPC1ENSG00000141458Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Npc1l1 / NPC1 like intracellular cholesterol transporter 1 / Q9UHC9*ENSMUSG0000002044739
Ptch1 / Q61115 / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA. / Q13635* / patched 1*ENSMUSG0000002146619
2 / Ptch2 / O35595 / Q9Y6C5* / patched 2*ENSMUSG0000002868118
Ptchd3 / Q0EEE2 / patched domain containing 3 / Q3KNS1*ENSMUSG0000003919816
Ptchd4 / Mus musculus patched domain containing 4 (Ptchd4), transcript variant 1, mRNA. / Q6ZW05* / patched domain containing 4*ENSMUSG0000004225611
Ptchd1 / Q14B62 / Patched domain-containing protein 1 / Q96NR3* / patched domain containing 1*ENSMUSG0000004155211


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR003392  Protein patched/dispatched
 IPR004765  NPC1-like
 IPR032190  Niemann-Pick C1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0007041 lysosomal transport ISS
 biological_processGO:0007628 adult walking behavior IGI
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008206 bile acid metabolic process ISS
 biological_processGO:0016242 negative regulation of macroautophagy IMP
 biological_processGO:0030301 cholesterol transport IEA
 biological_processGO:0031579 membrane raft organization IEA
 biological_processGO:0033344 cholesterol efflux IEA
 biological_processGO:0042493 response to drug IDA
 biological_processGO:0042632 cholesterol homeostasis IEA
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0046718 viral entry into host cell IMP
 biological_processGO:0060548 negative regulation of cell death IEA
 biological_processGO:0071383 cellular response to steroid hormone stimulus IDA
 biological_processGO:0071404 cellular response to low-density lipoprotein particle stimulus IDA
 biological_processGO:0090150 establishment of protein localization to membrane IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0045121 membrane raft IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015485 cholesterol binding IEA


Pathways (from Reactome)
Pathway description
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000182 increased circulating LDL cholesterol level "greater than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

 MP:0000242 impaired fertilization "defect or reduced ability in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronucei" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

 MP:0000781 reduced size of corpus callosum "smaller commissural plate interconnecting the cortical hemispheres of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0000848 abnormal pons "malformed band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:1776, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000867 abnormal anterior vermis "malformation in the anterior portion of the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000869 abnormal posterior vermis "malformation in the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

 MP:0001092 abnormal trigeminal ganglion morphology "malformed group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33038]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0001119 abnormal female reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that bears the offspring" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001126 abnormal ovary morphology "malformed female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001127 small ovary "reduced size of the female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001131 abnormal ovarian follicles "malformed or absent sac-like structure in the ovary which surrounds an ovum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33042]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001132 absent mature ovarian follicles "failure of ovarian follicle differentiation" [J:35782]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001154 seminiferous tubule degeneration "a retrogressive impairment of function or destruction of the tubules in the testes where spermatogenesis occurs" [J:50844]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001155 arrest of spermatogenesis "block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa" [J:62271]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001179 thicker alveolar septa 
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C57BL/6 * CBA

Allelic Composition: Npc1tm1.2Apl/Npc1tm1.2Apl
Genetic Background: C57BL/6-Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor,Npc1m1N/Npc1m1N
Genetic Background: involves: 129/Ola * BALB/c

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1b(EUCOMM)Hmgu/Npc1+
Genetic Background: C57BL/6N-Npc1tm1b(EUCOMM)Hmgu/H

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

 MP:0001488 increased startle reflex "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0001750 increased circulating follicle stimulating hormone level "higher than normal levels in the blood stream of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [J:35782, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001751 increased circulating luteinizing hormone level "higher than the normal levels in the bloodstream of LH, the hormone that regulates steroid production by the interstitial cells of the testis and the ovary" [J:35782, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001866 nasal inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the proximal portion of the respiratory passages " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor,Npc1m1N/Npc1m1N
Genetic Background: involves: 129/Ola * BALB/c

Allelic Composition: Npc1tm1.2Apl/Npc1tm1.2Apl
Genetic Background: C57BL/6-Npc1tm1.2Apl

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C57BL/6 * CBA

Allelic Composition: Npc1m1N/Npc1m1N,Tg(CAG-RAB9A)500Repa/0
Genetic Background: involves: BALB/c * C57BL/6 * CBA

Allelic Composition: Npc1m1N/Npc1m1N,Nr1h2tm1Djm/Nr1h2tm1Djm
Genetic Background: involves: 129S6/SvEvTac * BALB/c

Allelic Composition: Abca1tm1Wpfl/Abca1tm1Wpfl,Npc1m1N/Npc1m1N
Genetic Background: involves: 129P2/OlaHsd * BALB/c

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6

Allelic Composition: Npc1tm1.2Apl/Npc1tm1.2Apl
Genetic Background: C57BL/6-Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002783 abnormal ovarian secretion "malfunction of the production and/or release of hormones from ovarian tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6

 MP:0003009 abnormal cytokine secretion "impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Jak2tm1Kf/Jak2tm1Kf
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0003191 abnormal cellular cholesterol metabolism "impaired regulation of cellular cholesterol levels" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0003345 decreased number of ribs "fewer than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Npc1tm1b(EUCOMM)Hmgu/Npc1+
Genetic Background: C57BL/6N-Npc1tm1b(EUCOMM)Hmgu/H

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0003690 abnormal glial cell physiology "anomalous function of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Npc1m1N/Npc1m1N,Tlr4tm1Aki/Tlr4tm1Aki
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0003691 abnormal microglial cell function "anomalous activity of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C57BL/6 * CBA

 MP:0003947 abnormal cholesterol level "anomaly in the concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

 MP:0003982 increased cholesterol level "greater than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

Allelic Composition: Abca1tm1Wpfl/Abca1tm1Wpfl,Npc1m1N/Npc1m1N
Genetic Background: involves: 129P2/OlaHsd * BALB/c

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004163 abnormal adenophysis morphology "any malformation or absence of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004542 impaired acrosome reaction "abnormality in the cellular exocytosis that allows sperm to penetrate the zona pellucida of ovulated eggs" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004777 abnormal phospholipid level "anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C57BL/6 * CBA

Allelic Composition: Npc1m1N/Npc1m1N,Tg(CAG-RAB9A)500Repa/0
Genetic Background: involves: BALB/c * C57BL/6 * CBA

 MP:0004778 increased foam cell number "greater than normal number of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions" [CL:0000517]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0004781 abnormal surfactant composition "anomaly in the chemical consituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004856 decreased ovary weight "reduction in the average weight of the female reproductive gland containing the germ cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0004894 uterus atrophy "wasting of the uterus due to injury or disease resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005121 decreased circulating prolactin level "less than expected blood concentration of the hormone that stimulates milk secretion " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005138 decreased prolactin level "less than expected concentration of the hormone that stimulates milk secretion " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005145 increased circulating VLDL cholesterol level "greater than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005236 abnormal olfactory nerve morphology "anomalous structure of the first cranial nerve, which conveys the sense of smell" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0005278 abnormal cholesterol homeostasis "anomaly in the state of equilibrium in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:71350]
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Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0005425 increased macrophage count "greater than the normal numbers of macrophages" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:73418]
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Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0005499 abnormal olfactory system morphology "anomalous structure of the organs involved in smell" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0005544 corneal deposits "accumulation of minerals, proteins, or other anomalous substances on the cornea" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0005578 teratozoospermia "presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

 MP:0005630 increased lung weight "greater than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0006092 abnormal olfactory neuron morphology "malformation in the neurons that are activated by specific odorants" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92950]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0008245 abnormal alveolar macrophage morphology "any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells" [CL:0000583, MESH:A.11.329.372.600]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008257 thin myometrium "reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium" [MESH:A02.633.570.500, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008258 thin endometrium "reduced thickness of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MESH:A05.360.319.679.490, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008267 abnormal hippocampus CA3 region morphology 
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0008332 decreased lactotroph cell number "reduced number of an acidophilic cell of the anterior pituitary that produces prolactin" [CL:0000439, MESH:A06.407.747.608.812]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008365 adenohypophysis hypoplasia "underdevelopment or reduced size, usually due to a reduced cell number, of the anterior lobe of the pituitary gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008544 impaired olfaction "reduced ability to detect odors" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0008570 lipidosis "abnormal fat metabolism with increased accumulation of specific lipids in tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0008789 abnormal olfactory epithelium morphology "any structural anomaly in the epithelial cells that line the interior of the nose" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0008868 abnormal granulosa cell morphology "any structural anomaly of a supporting cell for the developing female gamete in the ovary of mammals; granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle" [MESH:A.05.360.319.114.630.535.200]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008869 anovulation "complete failure of ovum to be released from an ovarian follicle" [MESH:C13.351.500.056.630.050, MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0008916 abnormal astrocyte physiology "any functional anomaly of one of the large neuroglia cells of nervous tissue" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1tm1.1Apl/Npc1tm1.2Apl,Tg(Pcp2-cre)2Mpin/0
Genetic Background: B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin

Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0009009 absent estrous cycle "failure of female animals to enter or progress through their sexual cycle" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009081 thin uterus "reduced thickness or depth of the female muscular organ of gestation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009096 decreased endometrial gland number "fewer than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009142 decreased prepulse inhibition "decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0009230 abnormal sperm head morphology "any structural abnormality of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009234 absent sperm head "absence of the head segment of the sperm cell" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009287 decreased abdominal fat pad weight "less than average weight of the encapsulated adipose tissue in the abdomen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009359 endometrium atrophy "wasting of the endometrium due to injury or disease resulting in reduced size" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009363 abnormal secondary ovarian follicle morphology "any structural abnormality in the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0009587 abnormal plasma membrane sphingolipid content "altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

 MP:0009588 increased plasma membrane sphingolipid content "abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

 MP:0009589 sphingomyelinosis "the abnormal accumulation of sphingomyelin in the plasma membrane of cells of the nervous tissue, liver and spleen, usually due to sphingomyelinase deficiency" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0009823 abnormal sphingomyelin level "deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

 MP:0009841 foam cell reticulosis "an increase in cells with a vacuolated appearance due to abnormal deposition and retention of lipoproteins and derived from or related to the group of cells having the ability to take up and sequester inert particles and vital dyes, including macrophages and macrophage precursors, specialized endothelial cells lining the sinusoids of the liver, spleen, and bone marrow, and macrophages of lymphatic tissue and fibroblasts of bone marrow" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1tm1.2Apl
Genetic Background: B6.Cg-Npc1m1N/Npc1tm1.2Apl

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0010026 decreased liver cholesterol level "less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0010027 increased liver cholesterol level "greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor,Npc1m1N/Npc1m1N
Genetic Background: involves: 129/Ola * BALB/c

Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1spm/Npc1spm
Genetic Background: C57BLKS/J-Npc1spm/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1tm1Mbjg/Npc1tm1Mbjg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0010047 axonal spheroids "focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions" [PMID:15644421]
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Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0010161 decreased brain cholesterol level "less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Npc1m1N/Npc1m1N
Genetic Background: involves: 129S7/SvEvBrd * BALB/c

Allelic Composition: Abca1tm1Wpfl/Abca1tm1Wpfl,Npc1m1N/Npc1m1N
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0010162 increased brain cholesterol level "greater than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Apptm1Dbo/Apptm1Dbo,Npc1m1N/Npc1m1N
Genetic Background: C.Cg-Apptm1Dbo Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N,Tg(PRNP-APPSweInd)8Dwst/0
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: BALB/c * C3H/HeJ * C57BL/6J

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1tm1.1Dso/Npc1+
Genetic Background: B6.129-Npc1tm1.1Dso

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc

Allelic Composition: Npc1m1N/Npc1tm1.1Apl,Tg(Syn1-cre)671Jxm/0
Genetic Background: B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(Syn1-cre)671Jxm

 MP:0010181 decreased susceptibility to weight loss "smaller decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N,Tg(CAG-RAB9A)500Repa/0
Genetic Background: involves: BALB/c * C57BL/6 * CBA

 MP:0010762 abnormal microglial cell activation "any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0010813 abnormal alveolar lamellar body morphology "any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0010815 enlarged alveolar lamellar bodies "increased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0010831 partial lethality "the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/cNctr-Npc1m1N/J

 MP:0010998 pulmonary alveolar proteinosis "abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Npc1tm1b(EUCOMM)Hmgu/Npc1+
Genetic Background: C57BL/6N-Npc1tm1b(EUCOMM)Hmgu/H

 MP:0011940 decreased food intake "reduction in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
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Allelic Composition: Abcb1atm1Bor/Abcb1atm1Bor
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0012230 abnormal sphingolipid level 
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Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0012231 abnormal ganglioside level 
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0012232 abnormal ceramide level 
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: B6.C-Npc1m1N

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

 MP:0013203 abnormal primary cilium morphology "any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors" [GO:0072372]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

 MP:0020448 increased microglial cell activation "increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774]
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Allelic Composition: Npc1nmf164/Npc1nmf164
Genetic Background: C57BL/6J-Npc1nmf164/J

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: BALB/c-Npc1m1N

Allelic Composition: Npc1tm1.1Dso/Npc1tm1.1Dso
Genetic Background: B6.129-Npc1tm1.1Dso

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021242 Npc2 / Q9Z0J0 / Epididymal secretory protein E1 / P61916* / NPC intracellular cholesterol transporter 2*  / reaction






 

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