ENSMUSG00000007613


Mus musculus

Features
Gene ID: ENSMUSG00000007613
  
Biological name :Tgfbr1
  
Synonyms : Q64729 / Tgfbr1 / transforming growth factor, beta receptor I
  
Possible biological names infered from orthology : P36897 / transforming growth factor beta receptor 1
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: B1
Gene start: 47353222
Gene end: 47414931
  
Corresponding Affymetrix probe sets: 10504817 (MoGene1.0st)   1420893_a_at (Mouse Genome 430 2.0 Array)   1420894_at (Mouse Genome 430 2.0 Array)   1420895_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000007757
Ensembl peptide - ENSMUSP00000048501
Ensembl peptide - ENSMUSP00000103353
Ensembl peptide - ENSMUSP00000123761
NCBI entrez gene - 21812     See in Manteia.
MGI - MGI:98728
RefSeq - XM_017320103
RefSeq - NM_001312868
RefSeq - NM_001312869
RefSeq - NM_009370
RefSeq Peptide - NP_001299797
RefSeq Peptide - NP_001299798
RefSeq Peptide - NP_033396
swissprot - Q4FJL1
swissprot - Q64729
swissprot - Q9D5H8
swissprot - E9Q418
Ensembl - ENSMUSG00000007613
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tgfbr1aENSDARG00000017494Danio rerio
 tgfbr1bENSDARG00000042259Danio rerio
 TGFBR1ENSGALG00000033179Gallus gallus
 P36897ENSG00000106799Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Acvr1b / Q61271 / Activin receptor type-1B / P36896* / activin A receptor type 1B*ENSMUSG0000000053269
Acvr1c / Q8K348 / Activin receptor type-1C / Q8NER5* / activin A receptor type 1C*ENSMUSG0000002683465
Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*ENSMUSG0000005243051
Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*ENSMUSG0000002179650
Acvr1 / P37172 / Mus musculus activin A receptor, type 1 (Acvr1), transcript variant 5, mRNA. / Q04771* / activin A receptor type 1*ENSMUSG0000002683648
Acvrl1 / Q61288 / Serine/threonine-protein kinase receptor R3 / P37023* / activin A receptor like type 1*ENSMUSG0000000053046
Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*ENSMUSG0000003244030
Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*ENSMUSG0000005215529
Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*ENSMUSG0000006139328
Amhr2 / Q8K592 / Mus musculus anti-Mullerian hormone type 2 receptor (Amhr2), transcript variant 2, mRNA. / Q16671* / anti-Mullerian hormone receptor type 2*ENSMUSG0000002304726
Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*ENSMUSG0000006733626


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
 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:0000186 activation of MAPKK activity ISO
 biological_processGO:0001501 skeletal system development IGI
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001822 kidney development IGI
 biological_processGO:0001824 blastocyst development IDA
 biological_processGO:0001837 epithelial to mesenchymal transition ISO
 biological_processGO:0001937 negative regulation of endothelial cell proliferation IGI
 biological_processGO:0001938 positive regulation of endothelial cell proliferation ISS
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IMP
 biological_processGO:0003223 ventricular compact myocardium morphogenesis IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated ISO
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 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:0007507 heart development ISS
 biological_processGO:0008284 positive regulation of cell proliferation ISO
 biological_processGO:0008354 germ cell migration IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0009952 anterior/posterior pattern specification IGI
 biological_processGO:0010468 regulation of gene expression ISS
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010717 regulation of epithelial to mesenchymal transition ISS
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IGI
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation ISO
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation ISO
 biological_processGO:0018107 peptidyl-threonine phosphorylation ISO
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030199 collagen fibril organization IMP
 biological_processGO:0030307 positive regulation of cell growth ISO
 biological_processGO:0030335 positive regulation of cell migration ISO
 biological_processGO:0031396 regulation of protein ubiquitination ISO
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IMP
 biological_processGO:0032924 activin receptor signaling pathway ISS
 biological_processGO:0035556 intracellular signal transduction ISS
 biological_processGO:0040008 regulation of growth IEA
 biological_processGO:0042118 endothelial cell activation ISS
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043393 regulation of protein binding IMP
 biological_processGO:0043542 endothelial cell migration IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0048538 thymus development IMP
 biological_processGO:0048663 neuron fate commitment IMP
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IMP
 biological_processGO:0048705 skeletal system morphogenesis IGI
 biological_processGO:0048762 mesenchymal cell differentiation ISS
 biological_processGO:0048844 artery morphogenesis IMP
 biological_processGO:0048870 cell motility ISO
 biological_processGO:0051272 positive regulation of cellular component movement ISO
 biological_processGO:0051491 positive regulation of filopodium assembly IMP
 biological_processGO:0051496 positive regulation of stress fiber assembly IGI
 biological_processGO:0051897 positive regulation of protein kinase B signaling ISO
 biological_processGO:0060017 parathyroid gland development IMP
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060037 pharyngeal system development IMP
 biological_processGO:0060043 regulation of cardiac muscle cell proliferation IMP
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition ISS
 biological_processGO:0060389 pathway-restricted SMAD protein phosphorylation ISO
 biological_processGO:0060391 positive regulation of SMAD protein signal transduction ISO
 biological_processGO:0060412 ventricular septum morphogenesis IMP
 biological_processGO:0060978 angiogenesis involved in coronary vascular morphogenesis IMP
 biological_processGO:0060982 coronary artery morphogenesis IMP
 biological_processGO:0070723 response to cholesterol IDA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IDA
 biological_processGO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation IMP
 biological_processGO:1905075 positive regulation of occluding junction disassembly IGI
 biological_processGO:1905223 epicardium morphogenesis IMP
 biological_processGO:2001235 positive regulation of apoptotic signaling pathway ISO
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway ISO
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005623 cell ISS
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005901 caveola ISO
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:0043235 receptor complex ISO
 cellular_componentGO:0045121 membrane raft ISO
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 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 ISS
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor ISS
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005114 type II transforming growth factor beta receptor binding ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding ISO
 molecular_functionGO:0046332 SMAD binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050431 transforming growth factor beta binding ISO
 molecular_functionGO:0070411 I-SMAD binding ISO


Pathways (from Reactome)
Pathway description
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Ub-specific processing proteases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000081 premature suture closure "early fusion of the bones of the skull" [J:26513]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mettm1Ics/Mettm1Sst,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Tgfbr1R244Q/Tgfbr1+
Genetic Background: either: (involves: C57BL/6) or (involves: BALB/c * 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]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0000351 increased cell proliferation "greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1(EYFP)Cos/?,Tg(Il17f-cre)1Awai/?
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0001716 abnormal placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [J:23171]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 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]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 129S1/Sv * 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]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Tgfbr1tm1Mulm/Tgfbr1tm1Mulm
Genetic Background: involves: 129P2/OlaHsd

 MP:0002014 papilloma "benign epithelial tumor" [J:47225]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(KRT14-cre/ERT)20Efu/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * 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]
Show

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

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

Allelic Composition: Tgfbr1tm1.1Vlcg/Tgfbr1tm1.1Vlcg
Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002534 type IV hypersensitivity reaction "an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact " [Pathology , 2nd edition:ISBN 0-397-51047-0]
Show

Allelic Composition: Cd207tm2.1(cre)Bjec/Cd207+,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0002693 abnormal pancreas physiology "abberrant function of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfap2tm1a(KOMP)Wtsi/Mfap2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0002724 enhanced wound healing "increased ability to self-repair and close wounds" [dlb:Donna Burkart , Mouse Genome Informatics Curator, J:42016]
Show

Allelic Composition: Mettm1Ics/Mettm1Sst,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

Allelic Composition: Tgfbr1R244Q/Tgfbr1+
Genetic Background: either: (involves: C57BL/6) or (involves: BALB/c * C57BL/6)

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N

 MP:0002957 intestinal adenocarcinoma "malignant neoplasm of epithelial cells in the intestine" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: ApcMin/Apc+,Tgfbr1tm1Bopa/Tgfbr1+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: ApcMin/Apc+,Tgfbr1tm1Bopa/Tgfbr1+
Genetic Background: B6.Cg-Tgfbr1tm1Bopa ApcMin

 MP:0003211 abnormal aorta elastic fiber morphology "malformation of a slender connective tissue fiber in aortic tissue characterized by great elasticity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
Show

Allelic Composition: Tgfbr2tm1Karl/Tgfbr2tm1Karl,Tg(Tie1-cre)9Ref/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0003752 oral papilloma "benign epithelial tumor of the oral cavity" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(KRT14-cre/ERT)20Efu/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N

 MP:0003941 abnormal skin development "anomaly in the formation of of the membranous protective covering of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Tgfbr1tm1Spo/Tgfbr1tm1Spo
Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129 * C57BL/6)

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004044 aortic dissection "a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 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]
Show

Allelic Composition: Tgfbr1tm1Spo/Tgfbr1tm1Spo
Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129 * C57BL/6)

 MP:0004111 abnormal coronary artery morphology "anomaly of any of the arteries that branch from the aorta to supply blood to the heart" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0004207 squamous cell carcinoma "a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(KRT14-cre/ERT)20Efu/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N

 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]
Show

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,A1cfTg(Myh6-cre/Esr1*)1Jmk/0
Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N

 MP:0005243 hemothorax "bleeding into the pleural space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 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]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 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]
Show

Allelic Composition: Ahrtm3.1Bra/Ahrtm3.1Bra,Tg(Tek-cre)12Flv/0
Genetic Background: B6.Cg-Ahrtm3.1Bra Tg(Tek-cre)12Flv

 MP:0008078 increased CD8-positive T cell number "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfap2tm1a(KOMP)Wtsi/Mfap2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0008127 decreased dendritic cell number "reduction in the number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation" [ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cd207tm2.1(cre)Bjec/Cd207+,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

 MP:0009053 abnormal anal canal morphology "any structural abnormality in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(KRT14-cre/ERT)20Efu/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N

 MP:0009153 pancreas tumor "tumors or cancer of the pancreas" [MESH:C04.588.274.761]
Show

Allelic Composition: Mfap2tm1a(KOMP)Wtsi/Mfap2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0010274 increased organ/body region tumor incidence "greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Ptentm1Hwu,Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(KRT14-cre/ERT)20Efu/0
Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * CD-1 * FVB/N

 MP:0010279 increased gastrointestinal tumor incidence "greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: ApcMin/Apc+,Tgfbr1tm1Bopa/Tgfbr1+
Genetic Background: involves: 129S1/SvImJ * C57BL/6J

Allelic Composition: ApcMin/Apc+,Tgfbr1tm1Bopa/Tgfbr1+
Genetic Background: B6.Cg-Tgfbr1tm1Bopa ApcMin

 MP:0010661 ascending aorta aneurysm "a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0010856 dilated respiratory conducting tubes "expansion or widening of the lumens of the tubes of the respiratory system that allow passage of air from the trachea to the alveoli of the lungs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0010897 abnormal bronchiole epithelium morphology "any structural anomaly of the epithelial layer of the bronchioles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0010949 decreased Clara cell number "reduced number of the rounded, club-shaped, nonciliated cells found between ciliated cells in bronchiolar epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0010996 increased aorta wall thickness "increased depth of the part of the aorta that encloses the luminal space" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 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]
Show

Allelic Composition: Krastm4Tyj/Kras+,Ptentm1Hwu/Ptentm1Hwu
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 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]
Show

Allelic Composition: Tgfbr2tm1Karl/Tgfbr2tm1Karl,Tg(Tie1-cre)9Ref/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
Show

Allelic Composition: Gt(ROSA)26Sortm1(EYFP)Cos/?,Tg(Il17f-cre)1Awai/?
Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

 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]
Show

Allelic Composition: Wt1tm1Jae/Wt1tm1Jae
Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6

Allelic Composition: Tgfbr1tm1Spo/Tgfbr1tm1Spo
Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129 * C57BL/6)

Allelic Composition: Tgfbr1tm1.1Karl/Tgfbr1tm1.1Karl,Tg(Tie1-cre)9Ref/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Tgfbr1tm1Mulm/Tgfbr1tm1Mulm
Genetic Background: involves: 129P2/OlaHsd

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Celsr2tm1Dgen/Celsr2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Tgfbr1tm1Spo/Tgfbr1tm1Spo
Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129 * C57BL/6)

 MP:0011572 abnormal aorta bulb morphology "any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles" [MGI:csmith, PMID:10722531]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0011575 dilated aorta bulb "the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0011902 increased hematopoietic stem cell proliferation "increase in the expansion rate of a hematopoietic stem cell population by cell division" [MGI:csmith]
Show

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

 MP:0012416 decreased gland tumor incidence "less than the expected number of tumors originating in a gland in a given population in a given time period" [MGI:csmith]
Show

Allelic Composition: Mfap2tm1a(KOMP)Wtsi/Mfap2tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0030350 premature coronal suture closure "early closure of the coronal suture of the skull" [MGI:anna]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

 MP:0030356 premature lambdoid suture closure "early closure of the lambdoid suture of the skull" [MGI:anna]
Show

Allelic Composition: Tgfbr1tm1.1Hcd/Tgfbr1+
Genetic Background: 129S6(Cg)-Tgfbr1tm1.1Hcd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002603 Tgfb1 / P04202 / transforming growth factor, beta 1 / P01137*  / complex / reaction
 ENSMUSG00000007613 Q64729 / Tgfbr1 / transforming growth factor, beta receptor I / P36897* / transforming growth factor beta receptor 1*  / complex / reaction
 ENSMUSG00000025880 Smad7 / O35253 / SMAD family member 7 / O15105*  / complex / reaction
 ENSMUSG00000018363 A2A5Z6 / Smurf2 / E3 ubiquitin-protein ligase SMURF2 / Q9HAU4* / SMAD specific E3 ubiquitin protein ligase 2*  / complex
 ENSMUSG00000024563 Smad2 / Q62432 / Mothers against decapentaplegic homolog 2 / Q15796* / SMAD family member 2*  / reaction
 ENSMUSG00000024232 Bambi / Q9D0L6 / BMP and activin membrane-bound inhibitor homolog / Q13145* / BMP and activin membrane bound inhibitor*  / complex / reaction
 ENSMUSG00000032440 Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*  / complex / reaction
 ENSMUSG00000034557 Zfyve9 / zinc finger, FYVE domain containing 9 / O95405* / zinc finger FYVE-type containing 9*  / complex / reaction
 ENSMUSG00000032402 Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*  / reaction
 ENSMUSG00000032966 Fkbp1a / P26883 / Peptidyl-prolyl cis-trans isomerase FKBP1A / FKBP1C* / P62942* / FK506 binding protein 1C* / FK506 binding protein 1A*  / complex / reaction
 ENSMUSG00000030224 Strap / Q9Z1Z2 / serine/threonine kinase receptor associated protein / Q9Y3F4*  / complex
 ENSMUSG00000038780 Q9CUN6 / Smurf1 / E3 ubiquitin-protein ligase SMURF1 / Q9HCE7* / SMAD specific E3 ubiquitin protein ligase 1*  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr