ENSMUSG00000006538


Mus musculus

Features
Gene ID: ENSMUSG00000006538
  
Biological name :Ihh
  
Synonyms : Ihh / Indian hedgehog / P97812
  
Possible biological names infered from orthology : Q14623
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C4
Gene start: 74945315
Gene end: 74951672
  
Corresponding Affymetrix probe sets: 10355706 (MoGene1.0st)   1450704_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000128056
NCBI entrez gene - 16147     See in Manteia.
MGI - MGI:96533
RefSeq - NM_010544
RefSeq Peptide - NP_034674
swissprot - F6RLD8
swissprot - P97812
Ensembl - ENSMUSG00000006538
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ihhaENSDARG00000058733Danio rerio
 ihhbENSDARG00000058815Danio rerio
 IHHENSGALG00000011347Gallus gallus
 IHHENSG00000163501Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Shh / Q62226 / Sonic hedgehog protein Sonic hedgehog protein N-product / Q15465* / sonic hedgehog*ENSMUSG0000000263361
Dhh / Q61488 / Desert hedgehog protein Desert hedgehog protein N-product Desert hedgehog protein C-product / O43323* / desert hedgehog*ENSMUSG0000002300051


Protein motifs (from Interpro)
Interpro ID Name
 IPR000320  Hedgehog, N-terminal signalling domain
 IPR001657  Hedgehog protein
 IPR001767  Hedgehog protein, Hint domain
 IPR003586  Hint domain C-terminal
 IPR003587  Hint domain N-terminal
 IPR006141  Intein N-terminal splicing region
 IPR009045  Hedgehog signalling/DD-peptidase zinc-binding domain superfamily
 IPR036844  Hint domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0001503 ossification IMP
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IMP
 biological_processGO:0001649 osteoblast differentiation IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001708 cell fate specification IMP
 biological_processGO:0001763 morphogenesis of a branching structure IMP
 biological_processGO:0001944 vasculature development IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IMP
 biological_processGO:0003382 epithelial cell morphogenesis IMP
 biological_processGO:0003406 retinal pigment epithelium development IMP
 biological_processGO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis IMP
 biological_processGO:0006029 proteoglycan metabolic process IGI
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007224 smoothened signaling pathway ISO
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0009612 response to mechanical stimulus IEA
 biological_processGO:0009880 embryonic pattern specification IMP
 biological_processGO:0016539 intein-mediated protein splicing IEA
 biological_processGO:0030154 cell differentiation IDA
 biological_processGO:0030704 vitelline membrane formation IMP
 biological_processGO:0031016 pancreas development IMP
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IDA
 biological_processGO:0033085 negative regulation of T cell differentiation in thymus IMP
 biological_processGO:0033088 negative regulation of immature T cell proliferation in thymus IMP
 biological_processGO:0033089 positive regulation of T cell differentiation in thymus IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0035988 chondrocyte proliferation IMP
 biological_processGO:0040008 regulation of growth IGI
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045453 bone resorption IDA
 biological_processGO:0045596 negative regulation of cell differentiation IMP
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0046638 positive regulation of alpha-beta T cell differentiation IMP
 biological_processGO:0046639 negative regulation of alpha-beta T cell differentiation IMP
 biological_processGO:0048074 negative regulation of eye pigmentation IMP
 biological_processGO:0048469 cell maturation IMP
 biological_processGO:0048557 embryonic digestive tract morphogenesis IMP
 biological_processGO:0048596 embryonic camera-type eye morphogenesis IMP
 biological_processGO:0048666 neuron development IMP
 biological_processGO:0048745 smooth muscle tissue development IMP
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0051216 cartilage development IMP
 biological_processGO:0060135 maternal process involved in female pregnancy IEA
 biological_processGO:0060220 camera-type eye photoreceptor cell fate commitment IMP
 biological_processGO:0060323 head morphogenesis IMP
 biological_processGO:0061053 somite development IMP
 biological_processGO:0072498 embryonic skeletal joint development IMP
 biological_processGO:0090136 epithelial cell-cell adhesion IMP
 biological_processGO:0097421 liver regeneration IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005113 patched binding IPI
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Hedgehog ligand biogenesis
Release of Hh-Np from the secreting cell
Ligand-receptor interactions
Activation of SMO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000065 abnormal bone marrow cavities "absence or abnormal size or shape of the medullary cavities of the bones" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J,Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000157 abnormal sternum morphology "malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000163 abnormal cartilage morphology "anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Plp1tm3Wst/Plp1tm3Wst
Genetic Background: B6.129S1-Plp1tm3Wst

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Ihhtm2Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000440 domed skull 
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000462 abnormal digestive system morphology "anomalous structure of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 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: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gli3Xt-J/Gli3Xt-J,Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000767 abnormal smooth muscle morphology "anomalous structure of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc. " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0001048 absent enteric neurons "missing neurons that innervate the esophagus, stomach, small and large bowel" [Principles of Neural Science:ISBN 0-8385-8034-3, J:49471]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0001255 decreased body height "decreased shoulder to floor distance compared to controls" [dlb:Donna Burkart, Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 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: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
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Allelic Composition: Tyrc-32DSD/Tyrc
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
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Allelic Composition: Tyrc-32DSD/Tyrc
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [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: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002543 brachyphalangia "abnormally short phalanges" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

Allelic Composition: Ihhtm1.1Dcha/Ihh+
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 MP:0002657 chondrodystrophy "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002731 megacolon "extreme dilation of the colon" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:40722]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002926 aganglionic megacolon "extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0002932 abnormal joint "defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0003055 abnormal epiphyseal plate morphology "malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Gpc6tm1Lex/Gpc6+,Ihhtm1Amc/Ihh+
Genetic Background: involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * C57BL/6N

Allelic Composition: Gpc6tm1Lex/Gpc6tm1Lex,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * C57BL/6N

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0003283 abnormal digestive organ placement "different location or arrangement of any of the alimentary tract organs" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0003409 decreased width of hypertrophic chondrocyte zone "decreased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0003419 delayed endochondral bone ossification "late onset of bone formation in bones that form from cartilage" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

Allelic Composition: Ihhtm1.1Dcha/Ihh+
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0003795 abnormal bone structure 
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004053 abnormal synchondrosis "anomalous or persistent cartilagenous fusion of two bones " [J:102870, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Tyrc-32DSD/Tyrc
Genetic Background: involves: 101/Rl * C3H/Rl

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 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: Gli3Xt-J/Gli3Xt-J,Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

 MP:0004340 short scapula "reduced length of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0004672 short ribs "reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 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: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0005296 abnormal humerus morphology "malformation of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 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: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0006261 annular pancreas "an abnormal ring or collar of pancreatic tissue that encircles the duodenum" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:69854]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas

 MP:0006280 abnormal digit development "anomaly in the formation of the digits" [J:70592, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 MP:0006322 abnormal perichondrium morphology "any structural anomaly of the fibrous connective tissue that surrounds all non-joint end cartilage" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", J:117033, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gli3Xt-J/Gli3Xt-J,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

 MP:0006396 decreased long bone epiphyseal plate size "reduced size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bdnftm1Krj/Bdnftm1Lfr,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

 MP:0006397 disorganized long bone epiphyseal plate "a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006398 increased long bone epiphyseal plate size "greater than the normal size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ihhtm1Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008395 abnormal osteoblast differentiation "atypical production of or inability to produce 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: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm3(Runx2)Flng/Gt(ROSA)26Sortm3(Runx2)Flng,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008915 fused carpal bones "anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0009250 abnormal appendicular skeleton morphology "any structural anomaly of the bones of the limbs, shoulder and pelvic girdles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ihhtm1.1Dcha/Ihhtm1.1Dcha
Genetic Background: either: (involves: 129S/SvEv * FVB/N) or (involves: 129S/SvEv * FVB/N * ICR)

 MP:0009431 decreased fetal weight "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gpc6tm1Lex/Gpc6+,Ihhtm1Amc/Ihh+
Genetic Background: involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * C57BL/6N

Allelic Composition: Gpc6tm1Lex/Gpc6tm1Lex,Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129S5/SvEvBrd * 129X1/SvJ * C57BL/6N

 MP:0010029 abnormal basicranium morphology "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010969 absent compact bone "absence of the outer layers of solid, hard bone that covers spongy bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ihhtm1Blan/Ihhtm1Blan,Tg(Col2a1-cre)10Amc/0
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Gli3Xt-J/Gli3Xt-J,Gt(ROSA)26Sortm2(Gli2*)Flng/Gt(ROSA)26Sor+,Ihhtm1Amc/Ihhtm1Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0014101 decreased chondrocyte proliferation "decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0014105 abnormal chondrocyte differentiation "any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]
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Allelic Composition: Shhtm1Amc/Shhtm1Amc
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

Allelic Composition: Ihhtm2Amc/Ihh+,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N

Allelic Composition: Ihhtm1Amc/Ihhtm2Amc,Pth1rtm1Hmk/Pth1rtm2Hmk,Tg(Bglap2-cre)1Kry/0
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB

 MP:0020516 abnormal visceral yolk sac mesenchyme morphology "any structural anomaly of the portion of the visceral yolk sac that is derived from mesoderm and consists of mesenchyme" [UBERON:0003316]
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Allelic Composition: Tyrc-32DSD/Tyrc
Genetic Background: involves: 101/Rl * C3H/Rl

  


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






 

0 s.

 
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