ENSMUSG00000025902


Mus musculus

Features
Gene ID: ENSMUSG00000025902
  
Biological name :Sox17
  
Synonyms : Q61473 / Sox17 / Transcription factor SOX-17
  
Possible biological names infered from orthology : Q9H6I2 / SRY-box 17
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: A1
Gene start: 4490931
Gene end: 4497354
  
Corresponding Affymetrix probe sets: 10352936 (MoGene1.0st)   1421657_a_at (Mouse Genome 430 2.0 Array)   1429177_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000141894
Ensembl peptide - ENSMUSP00000141674
Ensembl peptide - ENSMUSP00000142116
Ensembl peptide - ENSMUSP00000142204
Ensembl peptide - ENSMUSP00000142154
Ensembl peptide - ENSMUSP00000027035
Ensembl peptide - ENSMUSP00000112351
NCBI entrez gene - 20671     See in Manteia.
MGI - MGI:107543
RefSeq - XM_011238364
RefSeq - NM_001289464
RefSeq - NM_001289465
RefSeq - NM_001289466
RefSeq - NM_001289467
RefSeq - NM_011441
RefSeq - XM_006495474
RefSeq - XM_006495475
RefSeq Peptide - NP_001276393
RefSeq Peptide - NP_001276395
RefSeq Peptide - NP_001276396
RefSeq Peptide - NP_035571
RefSeq Peptide - NP_001276394
swissprot - Q61473
swissprot - A0A0A6YXZ2
swissprot - A0A0A6YXV3
swissprot - A0A0A6YXS3
swissprot - A0A0A6YWS4
Ensembl - ENSMUSG00000025902
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sox17ENSDARG00000101717Danio rerio
 sox32ENSDARG00000100591Danio rerio
 ENSGALG00000032994Gallus gallus
 SOX17ENSGALG00000032851Gallus gallus
 SOX17ENSG00000164736Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sox18 / P43680 / Transcription factor SOX-18 / P35713* / SRY-box 18*ENSMUSG0000004647039
Sox7 / P40646 / SRY (sex determining region Y)-box 7 / Q9BT81* / SRY-box 7*ENSMUSG0000006306037
Sox9 / Q04887 / Transcription factor SOX-9 / P48436* / SRY-box 9*ENSMUSG0000000056726
Sox8 / Q04886 / SRY (sex determining region Y)-box 8 / P57073* / SRY-box 8*ENSMUSG0000002417625
Sox10 / Q04888 / Transcription factor SOX-10 / P56693* / SRY-box 10*ENSMUSG0000003300623
Sox11 / Q7M6Y2 / Transcription factor SOX-11 / P35716* / SRY-box 11*ENSMUSG0000006363219
Sox1 / P53783 / Transcription factor SOX-1 / O00570* / SRY-box 1*ENSMUSG0000009601419
Sox2 / SRY-box 2 / P48431*ENSMUSG0000007463719
Sox3 / SRY-box 3 / P41225*ENSMUSG0000004517919
Sox4 / Q06831 / Transcription factor SOX-4 / Q06945* / SRY-box 4*ENSMUSG0000007643118
Sox15 / P43267 / SRY (sex determining region Y)-box 15 / O60248* / SRY-box 15*ENSMUSG0000004128717
Sox14 / Q04892 / Transcription factor SOX-14 / O95416* / SRY-box 14*ENSMUSG0000005374716
Sox21 / Q811W0 / Transcription factor SOX-21 / Q9Y651* / SRY-box 21*ENSMUSG0000006151716
Sox12 / Q04890 / Transcription factor SOX-12 / O15370* / SRY-box 12*ENSMUSG0000005181715
Sry / Q05738 / sex determining region of Chr Y / Q05066* / sex determining region Y*ENSMUSG0000006903615


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR021934  Sox, C-terminal
 IPR033392  Sox 7/17/18, central domain
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001525 angiogenesis IGI
 biological_processGO:0001570 vasculogenesis IGI
 biological_processGO:0001706 endoderm formation ISO
 biological_processGO:0001828 inner cell mass cellular morphogenesis IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003142 cardiogenic plate morphogenesis IMP
 biological_processGO:0003143 embryonic heart tube morphogenesis IMP
 biological_processGO:0003151 outflow tract morphogenesis IGI
 biological_processGO:0003308 negative regulation of Wnt signaling pathway involved in heart development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007283 spermatogenesis IDA
 biological_processGO:0007369 gastrulation IMP
 biological_processGO:0007492 endoderm development IMP
 biological_processGO:0007493 endodermal cell fate determination IDA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0021903 rostrocaudal neural tube patterning IMP
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IDA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IMP
 biological_processGO:0030308 negative regulation of cell growth ISO
 biological_processGO:0031648 protein destabilization ISO
 biological_processGO:0035050 embryonic heart tube development IGI
 biological_processGO:0042074 cell migration involved in gastrulation IMP
 biological_processGO:0042661 regulation of mesodermal cell fate specification IMP
 biological_processGO:0042662 negative regulation of mesodermal cell fate specification IMP
 biological_processGO:0042789 mRNA transcription by RNA polymerase II ISO
 biological_processGO:0045595 regulation of cell differentiation IMP
 biological_processGO:0045597 positive regulation of cell differentiation IMP
 biological_processGO:0045732 positive regulation of protein catabolic process IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0045995 regulation of embryonic development IMP
 biological_processGO:0048568 embryonic organ development IMP
 biological_processGO:0048617 embryonic foregut morphogenesis IMP
 biological_processGO:0048643 positive regulation of skeletal muscle tissue development IDA
 biological_processGO:0048863 stem cell differentiation IMP
 biological_processGO:0048866 stem cell fate specification IDA
 biological_processGO:0050821 protein stabilization ISO
 biological_processGO:0060070 canonical Wnt signaling pathway IDA
 biological_processGO:0060214 endocardium formation IGI
 biological_processGO:0060807 regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification IMP
 biological_processGO:0060913 cardiac cell fate determination ISO
 biological_processGO:0060956 endocardial cell differentiation IGI
 biological_processGO:0061009 common bile duct development IMP
 biological_processGO:0061010 gall bladder development IMP
 biological_processGO:0061031 endodermal digestive tract morphogenesis IMP
 biological_processGO:0072001 renal system development ISO
 biological_processGO:0072091 regulation of stem cell proliferation IDA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway ISO
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IDA
 biological_processGO:2000035 regulation of stem cell division IMP
 biological_processGO:2000043 regulation of cardiac cell fate specification IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex ISO
 cellular_componentGO:0044798 nuclear transcription factor complex IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding ISO
 molecular_functionGO:0008134 transcription factor binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
Deactivation of the beta-catenin transactivating complex


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0000333 decreased bone marrow cell number "decreased number of cells that make up the core cavities of bones when compared to the norm" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0000474 abnormal foregut morphology "malformed cephalic portion of the primitive digestive tube of the embryo" [J:35802]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0000596 abnormal liver development "anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

 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: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0000600 liver hypoplasia "reduced size of liver due to decreased cell number " [J:57631]
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Allelic Composition: Lhx3tm1(cre)Slp/Lhx3tm1(cre)Slp
Genetic Background: involves: 129S1/Sv

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

 MP:0000610 cholestasis "impairment of bile flow due to obstruction in small bile ducts (intrahepatic cholestasis) or obstruction in large bile ducts (extrahepatic cholestasis)" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0001685 abnormal endoderm development "failure or abnormality in the formation of the endoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0001687 thin endoderm "reduced thickness of the innermost germ layer of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 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: Lhx3tm1(cre)Slp/Lhx3tm1(cre)Slp
Genetic Background: involves: 129S1/Sv

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0001860 liver inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the liver" [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: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 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: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 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: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0002138 abnormal liver/biliary system morphology "structural abnormality or aberrant development of any of the tissues of the liver or biliary system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Esr2tm1Unc/Esr2tm1Unc,Inhatm1Bay/Inhatm1Bay
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * 129S7/SvEvBrd

Allelic Composition: Sox17tm3.1Heli/Sox17tm3.1Heli
Genetic Background: B6.Cg-Sox17tm3.1Heli

Allelic Composition: Sox17tm1.1Nat/Sox17tm1.1Nat
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002191 abnormal artery morphology "malformation of the blood vessels that carry blood away from the heart" [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: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 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: Gsdma3Rim3/Gsdma3+
Genetic Background: involves: C57BL/10J * DBA/2J

Allelic Composition: Sox17tm1Jaw/Sox17tm1Sjm,Tg(Foxa3-cre)1Khk/0
Genetic Background: involves: 129 * C57BL/6 * DBA

Allelic Composition: Sox17tm1Jaw/Sox17tm1Sjm,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * FVB/N

Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Sox17tm1Jaw/Sox17tm1Jaw,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0002941 increased circulating alanine transaminase level "increased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [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: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0003070 increased vascular permeability "greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 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: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0003250 absent gall bladder "absence of the organ which serves as a storage reservoir for bile" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gsdma3Rim3/Gsdma3+
Genetic Background: involves: C57BL/10J * DBA/2J

Allelic Composition: Sox17tm1Jaw/Sox17tm1Sjm,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * FVB/N

 MP:0003251 gall bladder inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the gall bladder" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0003279 aneurysm "a protruding sac formed by the dilation of the wall of an artery, a vein, or the heart resulting from a weakening of the vessel wall or heart muscle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: BKa.129-Sox17tm1Sjm

Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0003402 decreased liver weight "reduced average weight of the bile-secreting exocrine gland" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0003458 decreased circulating ketone body level "less than the normal amount of acetoacetate, 3-hydroxybutyrate and acteone in the blood; produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0003655 absent pancreas "absence of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:20779]
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Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: BKa.129-Sox17tm1Sjm

Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0004044 aortic dissection "a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0004180 failure of initiation of embryo turning "failure to begin the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0004789 increased bile salt level "increased concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary sytem as bile salts; these play an important role in the digestion and absorption of fats" [MESH:D04.808.105, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0004810 decreased hematopoietic stem cell number "reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: BKa.129-Sox17tm1Sjm

Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129/Sv * C3H * C57BL/6 * C57BL/Ka * CBA

 MP:0004833 ovary atrophy "wasting of the ovary due to injury or disease resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0005084 abnormal gall bladder morphology "anomalous structure or development of the organ which serves as a storage reservoir for bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

Allelic Composition: Shhtm1(EGFP/cre)Cjt/Shh+,Sox17tm1Ysk/Sox17+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0005085 abnormal gall bladder physiology "anomalous action or function of the organ that stores and concentrates bile " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0005221 abnormal rostral-caudal axis patterning "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: BKa.129-Sox17tm1Sjm

 MP:0005266 abnormal metabolism "anomalous chemical and physical changes occurring in tissue " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0005414 extrahepatic cholestasis "impairment of bile flow in the large bile ducts by mechanical obstruction or stricture due to benign or malignant process" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0005592 abnormal vascular smooth muscle morphology "structural anomaly of the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0005675 small gall bladder "reduced size of the gall bladder, the organ that serves as a storage reservoir for bile" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:25724]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0008786 abnormal hindgut morphology "any structural anomaly of the caudal portion of the primitive digestive tube of the embryo" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0008987 abnormal liver lobule morphology "any structural anomaly of the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0009356 decreased liver triglyceride level "lower than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0009489 abnormal blood vessel endothelium morphology "any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0009492 abnormal gall bladder epithelium morphology "any structural anomaly of the simple columnar epithelial lining of the gall bladder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0009493 abnormal cystic duct morphology "any structural anomaly of the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

 MP:0009495 abnormal common bile duct morphology "any structural anomaly of the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gsdma3Rim3/Gsdma3+
Genetic Background: involves: C57BL/10J * DBA/2J

 MP:0009498 abnormal extrahepatic bile duct morphology "any structural anomaly of the passages external to the liver for the conveyance of bile" [MESH:A03.159.183.079]
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Allelic Composition: Epha2tm1Jrui/Epha2tm1Jrui,Krastm4Tyj/Kras+,Tg(Pdx1-cre)6Tuv/0,Trp53tm2.1Tyj/Trp53+
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * FVB/N

Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0009705 abnormal midgut morphology "any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

 MP:0009870 abnormal abdominal aorta morphology "any structural anomaly of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, and supplies oxygenated blood to all of the abdominal and pelvic organs and the legs" [http://www.medterms.com "MedicineNet.com"]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0010468 abnormal thoracic aorta morphology "any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest" [http://www.medterms.com "MedicineNet.com"]
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: 129/Sv * C3H * C57BL/6 * C57BL/Ka * CBA

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0011090 partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Sox17tm1Ysk/Sox17+
Genetic Background: B6.129S1-Sox17tm1Ysk

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: C57BL/6J * DBA/2J

Allelic Composition: Sox17tm1Sjm/Sox17tm1Sjm
Genetic Background: BKa.129-Sox17tm1Sjm

Allelic Composition: Sox17tm1Sjm/Sox17tm2Sjm,Tg(Tek-cre)12Flv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

 MP:0012201 decreased endothelial cell proliferation 
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Allelic Composition: Snrktm2Rra/Snrk+,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0013245 abnormal lipid metabolism "any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes" [MPD:Molly]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0014010 abnormal peroxisome morphology "any structural anomaly of a small cytoplasmic organelle enclosed by a single membrane that contains peroxidases and other enzymes which are important for a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism" [GO:0005777]
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Allelic Composition: Tbrg1tm1a(KOMP)Wtsi/Tbrg1+
Genetic Background: C57BL/6N-Tbrg1tm1a(KOMP)Wtsi

 MP:0020134 abnormal gallbladder size "an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile" [GOC:NV]
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Allelic Composition: Sox17tm2Sjm/Sox17+,Tg(Pdx1-cre)6Tuv/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006932 Ctnnb1 / Q02248 / Catenin beta-1 / P35222*  / reaction / complex
 ENSMUSG00000027985 Lef1 / P27782 / Lymphoid enhancer-binding factor 1 / Q9UJU2*  / reaction / complex
 ENSMUSG00000024985 Q924A0 / Tcf7l2 / transcription factor 7 like 2, T cell specific, HMG box / Q9NQB0* / transcription factor 7 like 2*  / reaction / complex






 

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contact: otassy@igbmc.fr