ENSMUSG00000042460


Mus musculus

Features
Gene ID: ENSMUSG00000042460
  
Biological name :C1galt1
  
Synonyms : C1galt1 / Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 / Q9JJ06
  
Possible biological names infered from orthology : core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 / Q9NS00
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: A1
Gene start: 7844842
Gene end: 7875687
  
Corresponding Affymetrix probe sets: 10536369 (MoGene1.0st)   1422772_at (Mouse Genome 430 2.0 Array)   1428490_at (Mouse Genome 430 2.0 Array)   1450745_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000047931
NCBI entrez gene - 94192     See in Manteia.
MGI - MGI:2151071
RefSeq - NM_052993
RefSeq Peptide - NP_443719
swissprot - Q9JJ06
Ensembl - ENSMUSG00000042460
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 C1GALT1 (1 of many)ENSDARG00000099098Danio rerio
 si:dkey-202e17.1ENSDARG00000062278Danio rerio
 Q5F3G7ENSGALG00000009752Gallus gallus
 Q9NS00ENSG00000106392Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9JMG2 / C1galt1c1 / C1GALT1-specific chaperone 1 / Q96EU7*ENSMUSG0000004897023
B3glct / Q8BHT6 / Beta-1,3-glucosyltransferase / Q6Y288* / beta 3-glucosyltransferase*ENSMUSG0000005195021


Protein motifs (from Interpro)
Interpro ID Name
 IPR003378  Fringe-like
 IPR026842  Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis ISO
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006493 protein O-linked glycosylation IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0016266 O-glycan processing IEA
 biological_processGO:0016267 O-glycan processing, core 1 ISO
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0060576 intestinal epithelial cell development IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 molecular_functionGO:0008378 galactosyltransferase activity ISO
 molecular_functionGO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
O-linked glycosylation of mucins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000228 abnormal thrombopoiesis "abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0000229 abnormal megakaryocyte differentiation "atypical process of formation and development these very large bone marrow cells which release mature platelets" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nrg1tm3Cbm/Nrg1tm3Cbm,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0000260 abnormal angiogenesis "aberrant process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: F13a1tm1Gdi/F13a1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000496 abnormal small intestine morphology "structural or developmental anomalies of the intestinum tenue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0000511 abnormal intestinal mucosa morphology "structural or developmental anomalies of the mucous lining of the intestine; this consists of epithelium, lamina, propria, and a layer of smooth muscle cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mapk1tm1Gela/Mapk1tm1Gela,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA/J

 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: Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+,Ptentm1Hwu/Ptentm1Hwu,Tg(Adipoq-cre)1Evdr/0
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/NJ

 MP:0001130 abnormal ovarian folliculogenesis "atypical formation or failure to form the spherical ovum in the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:35782]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+,Ptentm1Hwu/Ptentm1Hwu,Tg(Adipoq-cre)1Evdr/0
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/NJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 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: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001859 kidney inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the kidney" [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: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: F13a1tm1Gdi/F13a1+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: C1galt1tm1.2Staka/C1galt1tm1.2Staka
Genetic Background: involves: C57BL/6J * DBA/2

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/?
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+,Ptentm1Hwu/Ptentm1Hwu,Tg(Adipoq-cre)1Evdr/0
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/NJ

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: F13a1tm1Gdi/F13a1+
Genetic Background: involves: 129P2/OlaHsd

 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: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pax9tm1.1Hpt/Pax9tm1.1Hpt,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * SJL

 MP:0002580 duodenal lesions "any pathological change in the structure of the wall of the duodenum" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:70183]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0002581 abnormal ileum morphology "malformation of the portion of the small intestine that extends from the jejunum to the colon" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:70183]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0002599 increased mean platelet volume "increased content of platelet cells over the norm" [cml:Cathleen M. Lutz, Mouse Genome Informatics Curator]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002679 abnormal corpora lutea "malformed or absent yellow endocrine body formed in the ovary after follicle rupture" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002682 reduced number of mature ovarian follicles "fewer than normal numbers of spehroidal cell aggregations in the ovary containing the ovum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/?
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002743 glomerulonephritis "glomerular disease characterized by diffuse inflammatory reaction that is not the acute response to infection of the kidneys" [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: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0002780 decreased circulating testosterone level "less than the normal blood concentration of this most potent androgen" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0002871 albuminuria "presence of excess albumin in the urine" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003179 decreased platelet count "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: C1galt1tm1.1Staka/C1galt1tm1.2Staka,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * C57BL/6J * CBA * DBA/2

 MP:0003227 abnormal vascular branching morphogenesis "increase, decrease or anomaly in the process by which new vessels sprout off pre-existing vessels" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003271 abnormal duodenum morphology "malformation in the first division of the small intestine that extends from the pyloris to the junction with the jejunum " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0003306 small intestinal inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the small intestine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0003355 reduced ovulation "reduction in the frequency in which an ovum is released from a rupturing ovarian follicle" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003658 abnormal capillaries "malformation in the minute blood vessels that connect arterioles and venules" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96775]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0003696 abnormal zona pellucida "anomaly or absence of the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/?
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003953 abnormal hormone level "aberrant tissue or circulating concentration of any substance, usually a peptide or steroid, that has a specific metabolic regulatory effect on the activity or behavior of cells expressing a receptor for the hormone" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004505 decreased renal glomerulus number "reduced number of the capillary loops of the kidney that normally function as a filtration unit" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

Allelic Composition: C1galt1ptl1/C1galt1ptl1,Rag1tm1Bal/Rag1tm1Bal
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004720 abnormal platelet morphology "any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: C1galt1tm1.1Staka/C1galt1tm1.2Staka,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * C57BL/6J * CBA * DBA/2

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 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: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0005431 oocyte depletion "reduced numbers or absence of germ cells in the female" [llw2:Linda Washburn , Mouse Genome Informatics Curator, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/?
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Nrg1tm3Cbm/Nrg1tm3Cbm,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0006054 spinal hemorrhage "bleeding into the spine" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0006055 abnormal vascular endothelial cell morphology "malformation in the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0008108 abnormal small intestinal villus morphology "any structural anomaly of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 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: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008871 abnormal ovarian follicle number "abnormal numbers of spheroid cell aggregations in the ovary" [MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008995 early reproductive senescence "loss of reproductive capacity occurring at an earlier than expected age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009311 duodenum adenocarcinoma "malignant neoplasm of epithelial cells in the duodenum" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 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: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009375 thin zona pellucida "reduced thickness of the solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/?
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6

 MP:0009433 polyovular ovarian follicle "an ovarian follicle containing more than one oocyte (ovum)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: C1galt1tm1.2Staka/C1galt1tm1.2Staka
Genetic Background: involves: C57BL/6J * DBA/2

 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: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011124 increased primary ovarian follicle number "greater than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:csmith]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011129 decreased secondary ovarian follicle number "fewer than normal numbers of 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:csmith]
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Allelic Composition: C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Mgat1tm2Jxm/Mgat1tm2Jxm,Tg(Zp3-cre)1Gwh/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011402 renal cast "any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)" [MGI:anna]
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Allelic Composition: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0011423 kidney cortex atrophy "acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, 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: Casp1tm1Sesh/Casp1+,Casp4del/Casp4+
Genetic Background: involves: 129S1/SvImJ * 129S2/SvPas * NOD

 MP:0012408 increased duodenum glandular epithelium tumor incidence "greater than the expected number of tumors originating in the duodenal glandular epithelium in a given population in a given time period" [MGI:csmith]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/6J * DBA/2

 MP:0013482 abnormal duodenum crypts of Lieberkuhn morphology "any structural anomaly of the intestinal crypts located in the mucosa of the duodenum, the first division of the small intestine that extends from the pyloris to the junction with the jejunum" [MGI:Anna]
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Allelic Composition: B3gnt6tm1Lx/B3gnt6tm1Lx,C1galt1tm1.1Rpmc/C1galt1tm1.1Rpmc,Tg(Vil1-cre)997Gum/0
Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL

 MP:0020326 dilated capillary "stretched or widened aperture of the luminal space of the small branching blood vessel that form a network between the arterioles and venules" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Pdx1tm1Ted/Pdx1+
Genetic Background: involves: 129P2/OlaHsd

 MP:0030025 giant platelets "presence of abnormally enlarged platelets that are as large as or larger than the red blood cells in the microscopic field; giant platelets may be seen in myeloproliferative and myelodysplastic conditions, autoimmune thrombocytopenia, in association with severe leukemoid reactions, and in rare inherited conditions such as Bernard-Soulier syndrome" [HP:0001902, https://www.labce.com/spg498392_giant_platelets.aspx]
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Allelic Composition: C1galt1tm1.1Staka/C1galt1tm1.2Staka,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * C57BL/6J * CBA * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000048970 Q9JMG2 / C1galt1c1 / C1GALT1-specific chaperone 1 / Q96EU7*  / complex






 

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