ENSMUSG00000052155


Mus musculus

Features
Gene ID: ENSMUSG00000052155
  
Biological name :Acvr2a
  
Synonyms : Activin receptor type-2A / Acvr2a / P27038
  
Possible biological names infered from orthology : activin A receptor type 2A / P27037
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: C1.1
Gene start: 48814109
Gene end: 48903269
  
Corresponding Affymetrix probe sets: 10471953 (MoGene1.0st)   1437382_at (Mouse Genome 430 2.0 Array)   1451004_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000067305
NCBI entrez gene - 11480     See in Manteia.
MGI - MGI:102806
RefSeq - XM_006497623
RefSeq - NM_007396
RefSeq Peptide - NP_031422
swissprot - P27038
swissprot - A2AI38
Ensembl - ENSMUSG00000052155
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acvr2aaENSDARG00000011188Danio rerio
 acvr2abENSDARG00000104700Danio rerio
 ACVR2AENSGALG00000012444Gallus gallus
 ACVR2AENSG00000121989Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*ENSMUSG0000006139366
Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*ENSMUSG0000003244034
Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*ENSMUSG0000006733634
Acvr1c / Q8K348 / Activin receptor type-1C / Q8NER5* / activin A receptor type 1C*ENSMUSG0000002683429
Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*ENSMUSG0000002179629
Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*ENSMUSG0000005243029
Q64729 / Tgfbr1 / transforming growth factor, beta receptor I / P36897* / transforming growth factor beta receptor 1*ENSMUSG0000000761328
Acvrl1 / Q61288 / Serine/threonine-protein kinase receptor R3 / P37023* / activin A receptor like type 1*ENSMUSG0000000053028
Acvr1 / P37172 / Mus musculus activin A receptor, type 1 (Acvr1), transcript variant 5, mRNA. / Q04771* / activin A receptor type 1*ENSMUSG0000002683627
Amhr2 / Q8K592 / Mus musculus anti-Mullerian hormone type 2 receptor (Amhr2), transcript variant 2, mRNA. / Q16671* / anti-Mullerian hormone receptor type 2*ENSMUSG0000002304727
Acvr1b / Q61271 / Activin receptor type-1B / P36896* / activin A receptor type 1B*ENSMUSG0000000053227


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000472  Activin types I and II receptor domain
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001702 gastrulation with mouth forming second IGI
 biological_processGO:0001934 positive regulation of protein phosphorylation IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA
 biological_processGO:0007283 spermatogenesis IGI
 biological_processGO:0007368 determination of left/right symmetry IGI
 biological_processGO:0007498 mesoderm development IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0009952 anterior/posterior pattern specification IGI
 biological_processGO:0009966 regulation of signal transduction IDA
 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:0030501 positive regulation of bone mineralization ISO
 biological_processGO:0030509 BMP signaling pathway ISO
 biological_processGO:0030510 regulation of BMP signaling pathway IMP
 biological_processGO:0032924 activin receptor signaling pathway ISO
 biological_processGO:0032927 positive regulation of activin receptor signaling pathway ISO
 biological_processGO:0042713 sperm ejaculation IMP
 biological_processGO:0043084 penile erection IMP
 biological_processGO:0045648 positive regulation of erythrocyte differentiation ISO
 biological_processGO:0045669 positive regulation of osteoblast differentiation ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048706 embryonic skeletal system development IMP
 biological_processGO:0050999 regulation of nitric-oxide synthase activity IMP
 biological_processGO:0060011 Sertoli cell proliferation IMP
 biological_processGO:0071773 cellular response to BMP stimulus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034673 inhibin-betaglycan-ActRII complex ISO
 cellular_componentGO:0043235 receptor complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 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:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015026 coreceptor activity ISO
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017002 activin-activated receptor activity ISO
 molecular_functionGO:0019838 growth factor binding IPI
 molecular_functionGO:0030165 PDZ domain binding IPI
 molecular_functionGO:0034711 inhibin binding IPI
 molecular_functionGO:0043621 protein self-association IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding ISO
 molecular_functionGO:0098821 BMP receptor activity IMP


Pathways (from Reactome)
Pathway description
Signaling by Activin
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0000125 absent incisors "missing long pointed teeth; most anterior and prominent in the jaw" [J:17489]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0000531 right pulmonary isomerism "bilaterally symmetric right lung pattern (or altered asymmetric patterning of the lung)" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:58530]
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Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1Spo/Acvr2btm1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae

Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0001126 abnormal ovary morphology "malformed female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001131 abnormal ovarian follicles "malformed or absent sac-like structure in the ovary which surrounds an ovum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33042]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001134 absent corpora lutea "missing yellow endocrine body formed in the ovary after follicle rupture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001340 abnormal eyelid morphology "malformation of the skin folds covering the front of the eyeball" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bcl3tm1Rsch/Bcl3tm1Rsch
Genetic Background: B6.Cg-Bcl3tm1Rsch

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S4/SvJae * FVB/N

Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0001749 suppressed circulating follicle stimulating hormone level "repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [J:45065, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 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: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0001927 abnormal oestrous cycle (sensu Rodentia) "failure of or aberrant timing of the sexual cycle of female animals" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002116 abnormal craniofacial bone morphology "abnormal development of cranial or facial bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [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: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Gata4tm1Eno/Gata4tm1Eno
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003087 absent allantois "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0003830 abnormal testis development "abnormal morphogenesis of the male reproductive gland containing the germ cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100020]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1Spo/Acvr2btm1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae

Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0004616 lumbar vertebral transformation "homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1Spo/Acvr2btm1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae

Allelic Composition: Acvr2atm1Hsch/Acvr2a+,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1Eno/Gata4tm1Eno
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004901 decreased male germ cell number "reduced numbers of male germ cells whether they are undifferentiated or fully differentiated" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1Eno/Gata4tm1Eno
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0005030 absent amnion "missing innermost of the extraembryonic membranes" [dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0005159 azoospermia "absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0005163 cyclopia "a congenital defect in which the two orbits are united to form a single cavity containing one eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60303]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 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: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0005382 craniofacial phenotype 
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0006206 embryonic lethality before turning of embryo "death anytime after somite formation but before embryo turning (E8 to less than E9)" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0006378 abnormal spermatogonia morphology "anomaly in the number, structure or development of the large unspecialized male germ cells that give rise to spermatocytes" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1Eno/Gata4tm1Eno
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gata4tm1Eno/Gata4tm1Eno
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0008975 delayed male fertility "ability of a male organism to produce live offspring occurring at a later than expected age" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 MP:0009081 thin uterus "reduced thickness or depth of the female muscular organ of gestation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * 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: Rad50tm2Jpt/Rad50tm2Jpt,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

 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: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 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: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011191 increased embryonic epiblast cell apoptosis "increase in the number of embryonic epiblast cells undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1(cre/ERT2)Thl/0,Picalmtm1.1Tmae/Picalmtm1.1Tmae
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0012081 absent heart tube "absence of the primitive epithelial cardiac tube before the division into the chambers of the mature heart" [MGI:anna]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0012135 embryonic-extraembryonic boundary constriction "an invagination or pinching in the visceral endoderm that is centered at the boundary between embryonic and extra-embryonic regions of the developing embryo, often resulting in physical separation of embryonic and extraembryonic ectoderm" [MGI:csmith]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1.1Spo/Acvr2btm1.1Spo
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * FVB/N

 MP:0012138 decreased forebrain size "size reduction or truncation of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Nodaltm1Rob/Nodal+
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

 MP:0012685 abnormal primitive streak elongation "any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length" [MGI:anna]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

 MP:0012724 failure of head fold formation "inability to form the crescent-shaped, ventrally located fold of the embryonic disc at the future cephalic end of the developing embryo; the head fold constitutes the first body fold, and initiates brain, foregut and heart development" [MGI:anna]
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Allelic Composition: Acvr2atm1Hsch/Acvr2atm1Hsch,Acvr2btm1Enl/Acvr2b+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000532 Acvr1b / Q61271 / Activin receptor type-1B / P36896* / activin A receptor type 1B*  / complex / reaction
 ENSMUSG00000026124 Cfc1 / P97766 / Cryptic protein / CFC1B* / P0CG36* / P0CG37* / cripto, FRL-1, cryptic family 1* / cripto, FRL-1, cryptic family 1B*  / complex
 ENSMUSG00000021706 Q80U44 / Zfyve16 / zinc finger, FYVE domain containing 16 / Q7Z3T8* / zinc finger FYVE-type containing 16*  / complex / reaction
 ENSMUSG00000026834 Acvr1c / Q8K348 / Activin receptor type-1C / Q8NER5* / activin A receptor type 1C*  / reaction / complex
 ENSMUSG00000027358 Bmp2 / P21274 / Bone morphotic protein 2 / P12643* / bone morphogenetic protein 2*  / reaction / complex
 ENSMUSG00000037035 Inhbb / Q04999 / Inhibin beta B chain / P09529* / inhibin beta B subunit*  / reaction / complex
 ENSMUSG00000041324 Inhba / Q04998 / Inhibin beta A chain / P08476* / inhibin beta A subunit*  / complex / reaction
 ENSMUSG00000052430 Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*  / reaction / complex
 ENSMUSG00000018363 A2A5Z6 / Smurf2 / E3 ubiquitin-protein ligase SMURF2 / Q9HAU4* / SMAD specific E3 ubiquitin protein ligase 2*  / reaction / complex
 ENSMUSG00000038780 Q9CUN6 / Smurf1 / E3 ubiquitin-protein ligase SMURF1 / Q9HCE7* / SMAD specific E3 ubiquitin protein ligase 1*  / complex / reaction
 ENSMUSG00000052155 Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*  / complex / reaction
 ENSMUSG00000036867 Smad6 / O35182 / Mothers against decapentaplegic homolog 6 / O43541* / SMAD family member 6*  / reaction / complex
 ENSMUSG00000025880 Smad7 / O35253 / SMAD family member 7 / O15105*  / reaction / complex
 ENSMUSG00000109523 Gdf1 / P20863 / Embryonic growth/differentiation factor 1 / CERS1* / P27544* / P27539* / ceramide synthase 1* / growth differentiation factor 1*  / reaction / complex
 ENSMUSG00000037171 Nodal / P43021 / Q96S42* / nodal growth differentiation factor*  / complex / reaction
 ENSMUSG00000061393 Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*  / reaction / complex
 ENSMUSG00000027796 Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*  / reaction / complex
 ENSMUSG00000031681 Smad1 / P70340 / SMAD family member 1 / Q15797*  / reaction / complex
 ENSMUSG00000021540 Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*  / reaction / complex
 ENSMUSG00000021796 Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*  / complex / reaction
 ENSMUSG00000067336 Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*  / complex






 

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