ENSMUSG00000034121


Mus musculus

Features
Gene ID: ENSMUSG00000034121
  
Biological name :Mks1
  
Synonyms : Meckel syndrome type 1 protein homolog / Mks1 / Q5SW45
  
Possible biological names infered from orthology : Meckel syndrome, type 1 / Q9NXB0
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: C
Gene start: 87853215
Gene end: 87863803
  
Corresponding Affymetrix probe sets: 10380189 (MoGene1.0st)   1435835_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000043790
NCBI entrez gene - 380718     See in Manteia.
MGI - MGI:3584243
RefSeq - XM_006533645
RefSeq - NM_001039684
RefSeq Peptide - NP_001034773
swissprot - Q284W0
swissprot - Q5SW45
Ensembl - ENSMUSG00000034121
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mks1ENSDARG00000059657Danio rerio
 MKS1ENSGALG00000030979Gallus gallus
 MKS1ENSG00000011143Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR010796  B9 domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0008589 regulation of smoothened signaling pathway IMP
 biological_processGO:0010669 epithelial structure maintenance IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0044458 motile cilium assembly IMP
 biological_processGO:0048706 embryonic skeletal system development IMP
 biological_processGO:0048754 branching morphogenesis of an epithelial tube IMP
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0060322 head development IMP
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway IMP
 biological_processGO:0061009 common bile duct development IMP
 biological_processGO:1901620 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 biological_processGO:1990403 embryonic brain development IMP
 biological_processGO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0035869 ciliary transition zone IMP
 cellular_componentGO:0036038 MKS complex IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Hedgehog off state
Anchoring of the basal body to the plasma membrane
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000078 abnormal supraoccipital bone morphology "malformed upper part of the occipital bone" [J:61509]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000084 abnormal fontanelle morphology "structural defect in the membranous interval at the margins of cranial bones in neonates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000107 abnormal frontal bone morphology "malformed bone forming the forehead and part of the eye orbit" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000109 abnormal parietal bone morphology "malformed curved bone forming part of the vault of the cranium" [J:17489]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000153 rib bifurcation "forking or division of ribs, may be a result of partial rib fusions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000154 rib fusion "appearance of one or more ribs as a single structure" [J:62022, J:62023]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000157 abnormal sternum morphology "malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000351 increased cell proliferation "greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000413 polyphalangy "increased number of phalanges in any of the digits" [J:13069, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cdc20tm1.2Mama/Cdc20tm1.2Mama
Genetic Background: involves: 129/Sv * BALB/cJ * C57BL/6 * CD-1 * SJL

 MP:0000440 domed skull 
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000448 pointed snout "nose tapers to a small tip, sharper angle than wild type " [J:18378]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000522 cysts in kidney cortex "abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6N

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

 MP:0000579 abnormal nail morphology "structural or developmental anomaly of any of the thin, horny, translucent plates covering the dorsal surface of the distal end of each terminal phalanx of the digits" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mcph1tm1a(EUCOMM)Wtsi/Mcph1tm1a(EUCOMM)Wtsi
Genetic Background: B6JTyr;B6N-Mcph1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000690 absent spleen "missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 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: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000866 vermis hypoplasia "reduced cell number in the vermis" [J:61509]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0000925 abnormal floor plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001178 pulmonary hypoplasia "reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001300 ocular hypertelorism "increased distance between the eyes " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Braftm1Mmcm/Braftm1Mmcm,Nkx3-1tm4(cre/ERT2)Mms/Nkx3-1+,Ptentm1Hwu/Pten+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0001943 abnormal respiration "anomaly in the movement of gases into and out of the lung " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Braftm1Mmcm/Braftm1Mmcm,Nkx3-1tm4(cre/ERT2)Mms/Nkx3-1+,Ptentm1Hwu/Pten+
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

 MP:0002102 abnormal ear morphology "structural or developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002160 abnormal reproductive system morphology "structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

 MP:0002188 small heart "reduced size of the heart relative to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:67044]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0002622 abnormal cochlear hair cell morphology "malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002828 abnormal glomerular capsule "anomalous structure or development of the expanded beginning of a nephron that contains the glomerulus" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0002928 abnormal bile duct morphology "malformation of the channels that secrete bile from the liver to the gall bladder and intestines" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0002929 abnormal bile duct development "incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003327 liver cysts "abnormal membranous sacs in any portion of the liver" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0003333 liver fibrosis "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003342 accessory spleen "the splenic tissue is divided into equal masses; often related to situs inversus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0003582 abnormal ovary development "abnormal morphogenesis of the female reproductive gland containing the germ cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0003670 dilated glomerular capsule "an expansion in volume of the expanded beginning of a nephron that contains the glomerulus" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:91499]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003942 abnormal urinary system development 
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004017 duplex kidney "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004131 abnormal embryonic ciliary morphology "any structural malformation of the earliest cilia of the mouse embryo found on the cells of the embryonic node" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004133 heterotaxia "abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004321 short sternum "reduced length of the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004399 abnormal cochlear outer hair cell morphology "any structural abnormality in the sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve; there are three rows of columnar outer hair cells largely surrounded by cortilymph and supporting phalangeal cells; the apical end of each cell is anchored to the cuticular plate and about 100 stereocilia arranged in a V-shaped pattern extend from the cell s surface through the cuticular plate into the tectorial membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004450 presphenoid bone hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0004539 absent maxilla "missing the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0004860 dilated kidney collecting duct "stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005170 cleft lip "defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005269 abnormal occipital bone morphology "anomalous structure of the bone at the lower, posterior part of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0005537 abnormal cerebral aqueduct "anomalous structure of the channel in the mesencephalon that connets the third and fourth ventricles" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0006198 enophthalmos "sinking or retraction of the eye back into the socket" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0008272 abnormal endochondral bone ossification "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0008534 enlarged fourth ventricle "increased size of the irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [MESH:A08.186.211.276.500, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0008540 abnormal cerebrum morphology "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 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: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0009743 preaxial polydactyly "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0010413 complete atrioventricular septal defect "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]
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Allelic Composition: Arntltm2Bra/Arntltm2Bra,Tg(Tek-cre)12Flv/0
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010772 abnormal pollex morphology "any structural anomaly of the first or primary digit on the radial side of the hand" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0010807 abnormal stomach position or orientation "the stomach is displaced from the normal left-sided position and/or orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0010977 fused right lung lobes "complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0011059 abnormal ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain and the central canal of the spinal cord, which beat in concert and to move cerebrospinal fluid around the central nervous system" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Prnptm1Cwe/Prnptm1Cwe,Tg(Prnp-tTA)F959Sbp/Tg(Prnp-tTA)F959Sbp,Tg(tetO-ATXN3)2904Olri/Tg(tetO-ATXN3)2904Olri
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

 MP:0011109 partial lethality throughout fetal growth and development "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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011293 dilated nephron "stretched or widened aperture of the luminal space of the filtering unit of the kidney" [MGI:anna]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0011344 abnormal loop of Henle ascending limb thick segment morphology "any structural anomaly of the distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule" [MGI:anna]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0011440 increased kidney cell proliferation "increase in the expansion rate of any kidney cell population by cell division" [MGI:anna]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011727 ectopic ovary "appearance of an ovary in a region where it is not normally found (topographical anomaly)" [MGI:csmith]
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Allelic Composition: Mks1krc/Mks1krc
Genetic Background: involves: C3HeB/FeJ * C57BL/6 * CD-1

 MP:0011998 decreased embryonic cilium length "reduced length of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:csmith]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0012093 absent nodal flow "absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur" [MGI:anna]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0012667 split sternal manubrium "the appearance of an abnormal division of the cranial most segment of the sternum" [MGI:anna]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0013197 decreased embryonic cilium number "reduced number of the cilia of the mouse embryo found on the cells of the embryonic node" [MGI:anna]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0020383 decreased kidney epithelial cell primary cilium length "decreased length of the cilia on cells of the renal tubule or collecting duct" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Mks1hlb614/Mks1hlb614
Genetic Background: involves: C3H * C57BL/6

 MP:0030309 abnormal posterior cranial fossa morphology "any structural anomaly of the most inferior and deepest of the cranial fossae, located between the foramen magnum and tentorium cerebelli, which houses the brainstem and cerebellum; it is bounded anteriorly and medially by the dorsum sellae of the sphenoid bone; anteriorly and laterally by the superior border of the petrous part of the temporal bone; and posteriorly by the internal surface of the squamous part of the occipital bone; its floor consists of the mastoid part of the temporal bone and the squamous, condylar and basilar parts of the occipital bone" [http://teachmeanatomy.info/head/areas/cranial-fossa/posterior/, https://radiopaedia.org/articles/posterior-cranial-fossa]
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Allelic Composition: Mks1tm1a(EUCOMM)Wtsi/Mks1tm1a(EUCOMM)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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