ENSMUSG00000000530


Mus musculus

Features
Gene ID: ENSMUSG00000000530
  
Biological name :Acvrl1
  
Synonyms : Acvrl1 / Q61288 / Serine/threonine-protein kinase receptor R3
  
Possible biological names infered from orthology : activin A receptor like type 1 / P37023
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: F1
Gene start: 101128522
Gene end: 101145336
  
Corresponding Affymetrix probe sets: 10426999 (MoGene1.0st)   1435825_at (Mouse Genome 430 2.0 Array)   1451604_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114829
Ensembl peptide - ENSMUSP00000115241
Ensembl peptide - ENSMUSP00000122998
Ensembl peptide - ENSMUSP00000000542
Ensembl peptide - ENSMUSP00000112490
Ensembl peptide - ENSMUSP00000113297
Ensembl peptide - ENSMUSP00000113505
Ensembl peptide - ENSMUSP00000113536
Ensembl peptide - ENSMUSP00000114027
NCBI entrez gene - 11482     See in Manteia.
MGI - MGI:1338946
RefSeq - NM_001277259
RefSeq - NM_009612
RefSeq - NM_001277255
RefSeq - NM_001277257
RefSeq - NM_001277258
RefSeq Peptide - NP_001264187
RefSeq Peptide - NP_033742
RefSeq Peptide - NP_001264184
RefSeq Peptide - NP_001264186
RefSeq Peptide - NP_001264188
swissprot - Q61288
swissprot - D3YUY5
swissprot - D3Z7H9
Ensembl - ENSMUSG00000000530
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acvrl1ENSDARG00000018179Danio rerio
 ACVRL1ENSGALG00000035635Gallus gallus
 ACVRL1ENSG00000139567Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Acvr1 / P37172 / Mus musculus activin A receptor, type 1 (Acvr1), transcript variant 5, mRNA. / Q04771* / activin A receptor type 1*ENSMUSG0000002683659
Acvr1b / Q61271 / Activin receptor type-1B / P36896* / activin A receptor type 1B*ENSMUSG0000000053247
Q64729 / Tgfbr1 / transforming growth factor, beta receptor I / P36897* / transforming growth factor beta receptor 1*ENSMUSG0000000761346
Acvr1c / Q8K348 / Activin receptor type-1C / Q8NER5* / activin A receptor type 1C*ENSMUSG0000002683445
Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*ENSMUSG0000002179644
Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*ENSMUSG0000005243043
Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*ENSMUSG0000003244028
Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*ENSMUSG0000005215528
Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*ENSMUSG0000006139328
Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*ENSMUSG0000006733627
Amhr2 / Q8K592 / Mus musculus anti-Mullerian hormone type 2 receptor (Amhr2), transcript variant 2, mRNA. / Q16671* / anti-Mullerian hormone receptor type 2*ENSMUSG0000002304724


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR003605  GS domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis ISO
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IDA
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IDA
 biological_processGO:0001946 lymphangiogenesis IMP
 biological_processGO:0001974 blood vessel remodeling IMP
 biological_processGO:0003203 endocardial cushion morphogenesis IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated ISO
 biological_processGO:0006468 protein phosphorylation ISO
 biological_processGO:0007162 negative regulation of cell adhesion ISO
 biological_processGO:0007165 signal transduction ISO
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway ISO
 biological_processGO:0008015 blood circulation ISO
 biological_processGO:0008217 regulation of blood pressure ISO
 biological_processGO:0008285 negative regulation of cell proliferation ISO
 biological_processGO:0010596 negative regulation of endothelial cell migration ISO
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation ISO
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030308 negative regulation of cell growth ISO
 biological_processGO:0030336 negative regulation of cell migration ISO
 biological_processGO:0030509 BMP signaling pathway ISO
 biological_processGO:0030513 positive regulation of BMP signaling pathway IDA
 biological_processGO:0032924 activin receptor signaling pathway IEA
 biological_processGO:0035313 wound healing, spreading of epidermal cells ISO
 biological_processGO:0035912 dorsal aorta morphogenesis IMP
 biological_processGO:0042118 endothelial cell activation TAS
 biological_processGO:0043537 negative regulation of blood vessel endothelial cell migration ISO
 biological_processGO:0045602 negative regulation of endothelial cell differentiation IDA
 biological_processGO:0045603 positive regulation of endothelial cell differentiation IDA
 biological_processGO:0045766 positive regulation of angiogenesis IGI
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0048514 blood vessel morphogenesis IMP
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0051895 negative regulation of focal adhesion assembly ISO
 biological_processGO:0060836 lymphatic endothelial cell differentiation ISO
 biological_processGO:0060840 artery development IMP
 biological_processGO:0060841 venous blood vessel development IMP
 biological_processGO:0061154 endothelial tube morphogenesis ISO
 biological_processGO:0061298 retina vasculature development in camera-type eye IMP
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IDA
 biological_processGO:0071773 cellular response to BMP stimulus ISO
 biological_processGO:2000279 negative regulation of DNA biosynthetic process ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane ISO
 cellular_componentGO:0009986 cell surface ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISO
 molecular_functionGO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0005024 transforming growth factor beta-activated receptor activity ISO
 molecular_functionGO:0005025 transforming growth factor beta receptor activity, type I ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding ISO
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016361 activin receptor activity, type I ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019901 protein kinase binding ISO
 molecular_functionGO:0046332 SMAD binding ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding ISO
 molecular_functionGO:0050431 transforming growth factor beta binding ISO
 molecular_functionGO:0098821 BMP receptor activity ISO


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0000231 hypertension "sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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Allelic Composition: Abcc6rs32756904-T/Abcc6rs32756904-T,Dyscalc2C3H/HeJ/?
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000262 poor arterial differentiation "failure of or inadequate acquisition of the characteristics and/or functions of the arteries" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0000298 absent endocardial cushion "absence of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [MGI:CLS]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000433 microcephaly "an abnormally small head" [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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0000465 gastrointestinal hemorrhage "bleeding in the stomach and/or the intestines" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Tal1-cre/ERT)1Jrg/0
Genetic Background: involves: 129 * C57BL/6

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0000602 enlarged sinusoidal spaces "larger than normal sized cavities in the liver " [J:23170]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0001038 abnormal cholinergic neuron morphology "malformation or absence of the neurons that utilize acetylcholine as a neurotransmitter " [Principles of Neural Science, 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0001182 lung hemorrhage "bleeding in the respiratory organs" [J:66345]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 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: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 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: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 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: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Runx1tm1Soga/Runx1tm1.1Soga,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm2.2Spo/Acvrl1tm2.2Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

 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: Anxa1tm1Rjf/Anxa1tm1Rjf,Tg(MMTV-PyVT)634Mul/?
Genetic Background: involves: FVB/N

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Runx1tm1Soga/Runx1tm1.1Soga,Tg(Mx1-cre)1Cgn/0
Genetic Background: involves: C57BL/6 * CBA

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 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: Slc11a1r/Slc11a1r
Genetic Background: 129/Sv

Allelic Composition: Acvrl1tm1Spo/Acvrl1tm2Spo
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0002740 heart hypoplasia "decreased cell number in the heart" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:77765]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002976 vascular smooth muscle hypotrophy "decrease in size or thickness of the smooth muscle of the vascular wall" [RGD:Rat Genome Database submission]
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Allelic Composition: Acvrl1tm2.2Spo/Acvrl1tm2.2Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

 MP:0003292 melena "dark colored, foul-smelling feces due to the presence of blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Acvrl1tm2.2Spo/Acvrl1tm2.2Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0004067 abnormal ventricular trabeculae morphology "aberrant structure of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004068 dilated dorsal aorta "an expansion in the volume of the dorsal region of the main trunk of the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004076 abnormal vitelline vascular remodelling "anomaly in the conversion of the primary (honeycomb-like) vascular plexus of the yolk sac into a mature vascular network" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004175 telangiectases "vascular lesion formed by dilation of a group of small blood vessels" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0004183 abnormal sympathetic nervous system physiology "anomaly in the function of the part of the autonomic nervous system that innervates smooth muscle, cardiac muscle and glands and mediates the body s response to stressful situations" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0004783 abnormal cardinal vein morphology "any structural anomaly of any of the four veins in the developing vertebrate embryo which run along each side of the vertebral column" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004784 abnormal anterior cardinal vein morphology "any structural anomaly of the two paired veins draining the cephalic part of the body" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

 MP:0004883 abnormal blood vessel healing "anomaly in the repair process of blood vessels after injury" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Tal1-cre/ERT)1Jrg/0
Genetic Background: involves: 129 * C57BL/6

 MP:0004938 dilated vasculature "stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

 MP:0004950 abnormal brain vasculature "any structural anomaly of the blood vessel network of the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cfmq3129X1/SvJ/Cfmq3C57BL/6J,Cftrtm1Unc/Cftrtm1Unc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005329 abnormal cardiac muscle morphology "anomalous structure of the involuntary muscle comprising the myocardium " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0005590 increased vasodilation "greater than the expected or normal widening of the lumen of the blood vessels" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005662 increased circulating adrenaline level "greater than the normal concentration in the blood of this catacholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0005665 increased circulating noradrenaline level "greater than the normal blood concentration of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0006093 arteriovenous malformation "fusion of an artery and vein without an intervening capillary bed" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93125]
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Allelic Composition: Aqp1tm1Ask/Aqp1tm1Ask,Slc14a1tm1Ask/Slc14a1tm1Ask
Genetic Background: involves: C57BL/6J

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Tal1-cre/ERT)1Jrg/0
Genetic Background: involves: 129 * C57BL/6

 MP:0008872 abnormal response to xenobiotics "any anomaly in the physiological or morphological changes induced by a foreign compound, such as changes in blood pressure, changes in hormone or protein levels or hypertrophy or hypotrophy of an organ" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0009577 abnormal developmental vascular remodeling "any anomaly in the process by which existing vessels are reorganized during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0010480 pulmonary arteriovenous malformation "abnormal communications between the pulmonary arteries and the pulmonary veins, or between a bronchial artery and the pulmonary vein" [http://emedicine.medscape.com]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * FVB

 MP:0010530 cerebral arteriovenous malformation "congenital vascular anomaly in the cerebrum characterized by direct communication between an artery and a vein without passing through the capillary bed" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010531 gastrointestinal arteriovenous malformation "congenital vascular anomaly in the gastrointestinal system characterized by direct communication between an artery and a vein without passing through the capillary bed" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Gt(ROSA)26Sortm1(cre/ERT)Nat/Gt(ROSA)26Sor+
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ

Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Tal1-cre/ERT)1Jrg/0
Genetic Background: involves: 129 * C57BL/6

 MP:0010545 abnormal heart layer morphology "any structural anomaly of the laminar structure of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011022 abnormal circadian regulation of systemic arterial blood pressure "any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours" [GO:0003052]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 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: Abcc6rs32756904-T/Abcc6rs32756904-T,Dyscalc2C3H/HeJ/?
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Acvrl1tm1Spo/Acvrl1tm1Enl
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Acvrl1tm1Enl/Acvrl1tm1Enl
Genetic Background: involves: C57BL/6

Allelic Composition: Acvrl1tm1Dyl/Acvrl1tm1Dyl
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Acvrl1tm1Dgen/Acvrl1tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Acvrl1tm2.2Spo/Acvrl1tm2.2Spo
Genetic Background: involves: 129 * C57BL/6 * FVB/N

 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: Acvrl1tm2Spo/Acvrl1tm2Spo,Tg(Acvrl1-cre)L1Spo/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * FVB/N

 MP:0012253 abnormal intersomitic vessel morphology "any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites" [MGI:anna]
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Allelic Composition: Acvrl1tm1Enl/Acvrl1tm1Enl
Genetic Background: involves: C57BL/6

 MP:0012494 dilated branchial arch arteries "stretched or widened aperture of the luminal space of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [MGI:anna]
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Allelic Composition: Acvrl1tm1Enl/Acvrl1tm1Enl
Genetic Background: involves: C57BL/6

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
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Allelic Composition: Tsc22d3tm1.2Hum/Y
Genetic Background: involves: 129S1/SvImJ

 MP:0013139 moribund "in terminal decline and approaching death; lacking vitality or vigor and becoming unresponsive" [MGI:Ahmad_Retha]
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Allelic Composition: Acvrl1tm2.1Spo/Acvrl1tm2.1Spo,Tg(Tal1-cre/ERT)1Jrg/0
Genetic Background: involves: 129 * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000030046 Bmp10 / Q9R229 / Bone morphotic protein 10 / O95393* / bone morphogenetic protein 10*  / complex / reaction
 ENSMUSG00000072625 Gdf2 / Q9WV56 / Growth/differentiation factor 2 / Q9UK05*  / complex / reaction






 

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