ENSMUSG00000021540


Mus musculus

Features
Gene ID: ENSMUSG00000021540
  
Biological name :Smad5
  
Synonyms : Mothers against decapentaplegic homolog 5 / P97454 / Smad5
  
Possible biological names infered from orthology : Q99717 / SMAD family member 5
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: B1
Gene start: 56703010
Gene end: 56742377
  
Corresponding Affymetrix probe sets: 10405605 (MoGene1.0st)   1421047_at (Mouse Genome 430 2.0 Array)   1433641_at (Mouse Genome 430 2.0 Array)   1451873_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000065798
Ensembl peptide - ENSMUSP00000105500
Ensembl peptide - ENSMUSP00000105502
NCBI entrez gene - 17129     See in Manteia.
MGI - MGI:1328787
RefSeq - XM_006517119
RefSeq - NM_001164041
RefSeq - NM_001164042
RefSeq - NM_008541
RefSeq - XM_006517117
RefSeq - XM_006517118
RefSeq Peptide - NP_001157513
RefSeq Peptide - NP_001157514
RefSeq Peptide - NP_032567
swissprot - P97454
Ensembl - ENSMUSG00000021540
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smad1ENSDARG00000027199Danio rerio
 smad5ENSDARG00000037238Danio rerio
 SMAD5ENSGALG00000006309Gallus gallus
 SMAD5ENSG00000113658Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Smad1 / P70340 / SMAD family member 1 / Q15797*ENSMUSG0000003168190
Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*ENSMUSG0000002779676
Smad2 / Q62432 / Mothers against decapentaplegic homolog 2 / Q15796* / SMAD family member 2*ENSMUSG0000002456362
Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*ENSMUSG0000003240261
Smad4 / P97471 / Mothers against decapentaplegic homolog 4 / Q13485* / SMAD family member 4*ENSMUSG0000002451539
Smad6 / O35182 / Mothers against decapentaplegic homolog 6 / O43541* / SMAD family member 6*ENSMUSG0000003686725
Smad7 / O35253 / SMAD family member 7 / O15105*ENSMUSG0000002588024


Protein motifs (from Interpro)
Interpro ID Name
 IPR001132  SMAD domain, Dwarfin-type
 IPR003619  MAD homology 1, Dwarfin-type
 IPR008984  SMAD/FHA domain superfamily
 IPR013019  MAD homology, MH1
 IPR013790  Dwarfin
 IPR017855  SMAD-like domain superfamily
 IPR036578  SMAD MH1 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001657 ureteric bud development IEP
 biological_processGO:0001880 Mullerian duct regression IEA
 biological_processGO:0002051 osteoblast fate commitment IGI
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007281 germ cell development IMP
 biological_processGO:0009880 embryonic pattern specification ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030218 erythrocyte differentiation IMP
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0045669 positive regulation of osteoblast differentiation IGI
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0051216 cartilage development IGI
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:0060348 bone development IGI
 biological_processGO:0060395 SMAD protein signal transduction IGI
 biological_processGO:0071407 cellular response to organic cyclic compound IDA
 biological_processGO:0071773 cellular response to BMP stimulus IGI
 biological_processGO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus IGI
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IC
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017151 DEAD/H-box RNA helicase binding ISO
 molecular_functionGO:0031625 ubiquitin protein ligase binding ISO
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Crebbptm1Reck/Crebbp+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0000474 abnormal foregut morphology "malformed cephalic portion of the primitive digestive tube of the embryo" [J:35802]
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Allelic Composition: Crebbptm1Reck/Crebbp+
Genetic Background: involves: 129P2/OlaHsd

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Crebbptm1Reck/Crebbp+
Genetic Background: involves: 129P2/OlaHsd

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0001688 abnormal somite development "anomalous formation of any of the paired, metamerically arranged cell masses formed in the embryonic paraxial mesoderm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 MP:0001723 disorganized vascular plexus 
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001726 abnormal allantois "malformed fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:12622]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Prdm16csp1/Prdm16csp1
Genetic Background: involves: BALB/c * C57BL/6J * FVB/NJ

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Prdm16csp1/Prdm16csp1
Genetic Background: involves: BALB/c * C57BL/6J * FVB/NJ

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

 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: Esr1tm1Ksk/Esr1tm1Ksk,Esr2tm1Unc/Esr2tm1Unc
Genetic Background: involves: 129P2/OlaHsd

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Crebbptm1Reck/Crebbp+
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0002088 abnormal embryonic growth/weight/body size "limited or accelerated growth or development apparent before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Crebbptm1Reck/Crebbp+
Genetic Background: involves: 129P2/OlaHsd

 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: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 MP:0002208 abnormal germ cell morphology "anomalous structure of the germ cell, that is, any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0002621 delayed neural tube closure "delayed fusion of the neuroepithelial layer in early development" [J:79790, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003119 abnormal digestive system development "dysmorphology of the organ system that converts ingested food to nutrients and energy" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003384 abnormal ventral body wall "malformation in the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003579 ovarian carcinoma 
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk,Smad9tm1Jfm/Smad9tm1Jfm
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

 MP:0003861 abnormal nervous system development "impaired or altered growth of the components of the nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * 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: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * 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: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004937 dilated heart "stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Brca1tm1Aash/Brca1tm1Aash,Tg(LGB-cre)74Acl/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0005029 abnormal amnion "malformed innermost layer of the extraembryonic membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad5tm1.1Huy/Smad5tm1.1Huy
Genetic Background: involves: 129P2/OlaHsd

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Brca1tm1Aash/Brca1tm1Aash,Tg(LGB-cre)74Acl/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0005435 hemoperitoneum "blood in the peritoneal cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:87293]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk,Smad9tm1Jfm/Smad9tm1Jfm
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006029 abnormal sclerotome "malformation of the one or more of the masses of mesodermal tissue that is derived from the somites and is adjacent to the notochord that give rise to the ribs and vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006055 abnormal vascular endothelial cell morphology "malformation in the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006262 testis tumor "presence of abnormal rapidly proliferating cells in the testis, usually in the form of a distinct mass" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:60034]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

 MP:0006345 absent second branchial arch "missing the second branchial arch" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0008000 ovary tumor "presence of abnormal rapidly proliferating cells in the ovary, usually in the form of a distinct mass" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk,Smad9tm1Jfm/Smad9tm1Jfm
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

 MP:0008392 decreased primordial germ cell number "reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0008393 absent primordial germ cells "absence of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0008995 early reproductive senescence "loss of reproductive capacity occurring at an earlier than expected age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * C57BL/6

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk,Smad9tm1Jfm/Smad9tm1Jfm
Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6

 MP:0009656 delayed chorioallantoic fusion "late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010642 absent third branchial arch "absence of the structure of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Smad5tm1Zuk/Smad5+,Smad9tm2.1Rob/Smad9tm2.1Rob
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0011205 excessive folding of visceral yolk sac "the appearance of wrinkles or folds on the surface of the visceral yolk sac" [MGI:csmith, PMID:17881493]
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Allelic Composition: Smad1tm1Rob/Smad1+,Smad5tm1Zuk/Smad5+
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

 MP:0012082 delayed heart development "late onset of the induction and/or differentiation of the heart" [MGI:anna]
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Allelic Composition: Smad5tm1Zuk/Smad5tm1Zuk
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0012106 impaired exercise endurance "impaired performance during controlled physical activity" [MGI:smb]
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Allelic Composition: Brca1tm1Aash/Brca1tm1Aash,Tg(LGB-cre)74Acl/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0012136 absent forebrain "absence 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: Apctm1Mmt/Apc+,Smad4tm1Mmt/Smad4+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0012411 increased granulosa cell tumor incidence "greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period" [http://orcid.org/0000-0001-5208-3432]
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Allelic Composition: Prdm16csp1/Prdm16csp1
Genetic Background: involves: BALB/c * C57BL/6J * FVB/NJ

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2.1Rob,Smad5tm1Huy/Smad5tm1Huy
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

Allelic Composition: Amhr2tm3(cre)Bhr/Amhr2+,Smad1tm2Rob/Smad1tm2Rob,Smad5tm1Huy/Smad5tm1Zuk
Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027358 Bmp2 / P21274 / Bone morphotic protein 2 / P12643* / bone morphogenetic protein 2*  / reaction / complex
 ENSMUSG00000061393 Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*  / 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*  / complex / reaction
 ENSMUSG00000031681 Smad1 / P70340 / SMAD family member 1 / Q15797*  / complex / reaction
 ENSMUSG00000052155 Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*  / complex / reaction
 ENSMUSG00000021540 Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*  / complex / reaction
 ENSMUSG00000021706 Q80U44 / Zfyve16 / zinc finger, FYVE domain containing 16 / Q7Z3T8* / zinc finger FYVE-type containing 16*  / reaction / complex
 ENSMUSG00000027796 Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*  / reaction / complex
 ENSMUSG00000036867 Smad6 / O35182 / Mothers against decapentaplegic homolog 6 / O43541* / SMAD family member 6*  / complex / reaction
 ENSMUSG00000029050 Ski / SKI proto-oncogene / P12755*  / reaction / complex
 ENSMUSG00000025880 Smad7 / O35253 / SMAD family member 7 / O15105*  / reaction / complex
 ENSMUSG00000024515 Smad4 / P97471 / Mothers against decapentaplegic homolog 4 / Q13485* / SMAD family member 4*  / 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*  / reaction / complex






 

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