ENSMUSG00000035311


Mus musculus

Features
Gene ID: ENSMUSG00000035311
  
Biological name :Gnptab
  
Synonyms : Gnptab / N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits / Q69ZN6
  
Possible biological names infered from orthology : Q3T906
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: C1
Gene start: 88379132
Gene end: 88447329
  
Corresponding Affymetrix probe sets: 10365601 (MoGene1.0st)   1435335_a_at (Mouse Genome 430 2.0 Array)   1452461_a_at (Mouse Genome 430 2.0 Array)   1456620_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116915
Ensembl peptide - ENSMUSP00000120643
Ensembl peptide - ENSMUSP00000118025
Ensembl peptide - ENSMUSP00000020251
NCBI entrez gene - 432486     See in Manteia.
MGI - MGI:3643902
RefSeq - XM_006513848
RefSeq - XM_006513849
RefSeq - XM_006513850
RefSeq - XM_017314026
RefSeq - NM_001004164
RefSeq Peptide - NP_001004164
swissprot - Q69ZN6
swissprot - D3Z1C3
swissprot - D3YXC6
swissprot - D6RJ30
Ensembl - ENSMUSG00000035311
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnptabENSDARG00000030153Danio rerio
 GNPTABENSGALG00000012763Gallus gallus
 GNPTABENSG00000111670Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000800  Notch domain
 IPR002048  EF-hand domain
 IPR010506  DMAP1-binding domain
 IPR018247  EF-Hand 1, calcium-binding site
 IPR021520  Stealth protein CR2, conserved region 2
 IPR031356  Stealth protein CR4, conserved region 4
 IPR031357  Stealth protein CR3, conserved region 3
 IPR031358  Stealth protein CR1, conserved region 1
 IPR035993  Notch-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization IEA
 biological_processGO:0009306 protein secretion IMP
 biological_processGO:0016256 N-glycan processing to lysosome IEA
 biological_processGO:0033299 secretion of lysosomal enzymes IMP
 biological_processGO:0046835 carbohydrate phosphorylation IEA
 cellular_componentGO:0000139 Golgi membrane ISO
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016772 transferase activity, transferring phosphorus-containing groups IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0000066 osteoporosis "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Eps8tm1Ppdf/Eps8tm1Ppdf,Eps8l2tm1Wma/Eps8l2tm1Wma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 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: Plxnb1tm1.1Ltam/Plxnb1tm1.1Ltam,Plxnb2tm1Matl/Plxnb2tm1Matl
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0000447 flattened snout 
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0000613 abnormal salivary gland morphology "malformed saliva-secreting glands of the oral cavity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:63764]
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Allelic Composition: Plxnb1tm1.1Ltam/Plxnb1tm1.1Ltam,Plxnb2tm1Matl/Plxnb2tm1Matl
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001169 abnormal bulbourethral gland morphology "malformed gland in males that lies along the prostate gland and secretes a fluid component of the seminal fluid into the urethra " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:54465, J:63764]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0001200 thick skin "greater depth of skin " [J:47225]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 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: Eps8tm1Ppdf/Eps8tm1Ppdf,Eps8l2tm1Wma/Eps8l2tm1Wma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001541 abnormal osteoclast function "reduced ability or inability of osteoclasts to absorb and remove osseous tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0001570 abnormal circulating enzyme level "aberrent concentration in the blood of any of the proteins that act as catalysts for biological reactions" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0001847 brain inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain" [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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Eps8tm1Ppdf/Eps8tm1Ppdf,Eps8l2tm1Wma/Eps8l2tm1Wma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002161 abnormal fertility/fecundity "reduced ability or inability to produce live offspring" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0003174 increased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is increased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0003652 abnormal skin turgor "anomaly in the ability of the skin to resist deformation; influential factors include dehydration and age" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0003743 abnormal facial morphology "anomalous structure or development of the face" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0003793 abnormal submandibular gland morphology "any structural malformation of either of the large major salivary glands situated beneath the mandible" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0003797 abnormal compact bone morphology "structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0004016 decreased bone mass "a reduction in the total amount of bone tissue contained in the skeleton" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0004214 abnormal long bone diaphysis morphology "any structural anomaly of the main or mid section (shaft) of a long bone" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0004704 short vertebral column "decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0004984 increased osteoclast cell number "greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0004986 abnormal osteoblast morphology "any structural anomaly of a bone-forming cell, which normally forms an osseous matrix (osteoid) in which it becomes enclosed as an osteocyte" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0004989 decreased osteoblast cell number "reduction in the number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0004992 increased bone resorption "greater than average amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0005220 abnormal exocrine pancreas morphology "malformation of the acinar gland portion of the pancreas that secretes digestive enzymes " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 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: Raf1tm1Zim/Raf1tm1Zim
Genetic Background: involves: 129/Sv * CD-1

Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: Not Specified

Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0006162 thick eyelids "increased width of the eyelid" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0008263 abnormal hippocampus CA1 region morphology 
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0008267 abnormal hippocampus CA3 region morphology 
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0008705 increased interleukin-6 secretion "increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
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Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0008753 abnormal osteocyte morphology "any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi" [MESH:A.11.329.629.500]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0009105 penis prolapse "inability to withdraw the penis into the prepuce (the fold of skin covering the glans penis), other than a paraphimosis; not to be confused with phimosis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0009146 abnormal pancreatic acinar cell morphology "any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0009160 abnormal pancreatic acinar cell zymogen granule "any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0009978 abnormal cerebellum white matter morphology 
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 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: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

 MP:0010879 decreased trabecular bone volume "decrease in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0011101 partial prenatal 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 birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0011711 decreased osteoblast differentiation 
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Allelic Composition: Gnptabtm1Kkol/Gnptabtm1Kkol
Genetic Background: involves: 129 * C57BL/6

 MP:0012506 brain atrophy "acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0013159 Purkinje cell axonal dystrophy "Purkinje cell-autonomous progressive dystrophy leading to cell death, manifested by axonal swellings and degeneration of nerve terminals, while Purkinje cell dendrites remain largely unaffected" [MGI:csmith]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0013558 abnormal exocrine gland morphology "any structural anomaly of any of the glands of the exocrine system that secrete their essential product by way of a duct to some environment external to itself, either inside the body or on a surface of the body; the duct portion may be branched (compound) or unbranched (simple); the glandular portion may be tubular or acinar, or may be a mix of the two (tubuloacinar or tubuloalveolar); if the glandular portion branches, then the gland is called a branched gland Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas" [http://en.wikipedia.org/wiki/Exocrine_gland, MGI:Anna]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0013582 abnormal lateral nasal gland morphology "any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those described for the major serous salivary glands; secretory contents of the LNG drain into the nasal vestibule; the LNG is a major site for the synthesis and secretion of odorant-binding proteins that serve as odorant carriers in nasal mucus; it also, synthesizes large amounts of immunoglobulin A, which is important for immune defense of the upper respiratory tract, and testosterone and salivary androgen-binding proteins, which are likely important in olfaction and reproductive behavior" [ISBN:0080454321, ISBN:0123813611, MGI:Anna]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0013594 abnormal parotid gland acinus morphology "any structural anomaly of any of the secretory units (acini) of either parotid gland which in human and rodent consist almost exclusively of serous secretory cells with their lumina continuous with intercalated ducts; in mouse, parotid gland acini are very small and consist of 3-4 tall pyramidal cells with strongly basophilic cytoplasm and basally located, large spherical nuclei; the serous secretory cells contain many secretory granules having an electron-lucent profile which are situated in the supranuclear cytoplasm; the serous secretory cells have a well-developed rough endoplasmic reticulum in the infranuclear region and are surrounded by myoepithelial cells" [http://ctrgenpath.net/static/atlas/mousehistology/Windows/digestive/parotide.html, MGI:Anna, PMID:23209333]
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Allelic Composition: Ghrtm1Arge/Ghrtm1Arge,Igf1tm1Arge/Igf1tm1Arge
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA * MF1

 MP:0014114 abnormal cognition "any anomaly in the operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory" [GO:0050890]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0014185 cerebellum atrophy "acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:Anna]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0030035 small nasal bridge "reduced size of the saddle-shaped area that includes the nasal root and the lateral aspects of the nose; it lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi" [MGI:anna]
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Allelic Composition: Gnptabnym/Gnptabnym
Genetic Background: involves: BALB/cAnNHsd * C3H/HeNHsd

 MP:0030074 coarse facial features "absence of fine and sharp appearance of facial features, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues" [HP:0000280]
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Allelic Composition: Gnptabtm1Dkji/Gnptabtm1Dkji
Genetic Background: involves: 129 * C57BL/6

  


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






 

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