ENSMUSG00000018604


Mus musculus

Features
Gene ID: ENSMUSG00000018604
  
Biological name :Tbx3
  
Synonyms : P70324 / T-box 3 / Tbx3
  
Possible biological names infered from orthology : O15119
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 119670669
Gene end: 119684724
  
Corresponding Affymetrix probe sets: 10525016 (MoGene1.0st)   1437479_x_at (Mouse Genome 430 2.0 Array)   1439567_at (Mouse Genome 430 2.0 Array)   1444594_at (Mouse Genome 430 2.0 Array)   1445757_at (Mouse Genome 430 2.0 Array)   1448029_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000018748
Ensembl peptide - ENSMUSP00000078657
Ensembl peptide - ENSMUSP00000112519
NCBI entrez gene - 21386     See in Manteia.
MGI - MGI:98495
RefSeq - XM_006530276
RefSeq - NM_011535
RefSeq - NM_198052
RefSeq Peptide - NP_932169
RefSeq Peptide - NP_035665
swissprot - P70324
swissprot - Q4VA43
Ensembl - ENSMUSG00000018604
  

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
 tbx3aENSDARG00000002216Danio rerio
 TBX3ENSGALG00000036043Gallus gallus
 TBX3ENSG00000135111Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tbx2 / Q60707 / T-box transcription factor TBX2 / Q13207* / T-box 2*ENSMUSG0000000009357
Tbx5 / P70326 / T-box 5 / Q99593*ENSMUSG0000001826322
Tbx4 / P70325 / T-box 4 / P57082*ENSMUSG0000000009422
Tbx18 / T-box 18 / O95935*ENSMUSG0000003241921
Tbx15 / O70306 / T-box transcription factor TBX15 / Q96SF7* / T-box 15*ENSMUSG0000002786821
Tbx20 / Q9ES03 / T-box transcription factor TBX20 / Q9UMR3* / T-box 20*ENSMUSG0000003196520
Tbx6 / P70327 / T-box transcription factor TBX6 / O95947* / T-box 6*ENSMUSG0000003069920
Tbx1 / T-box 1 / O43435*ENSMUSG0000000909720
Tbx10 / Q810F8 / T-box transcription factor TBX10 / O75333* / T-box 10*ENSMUSG0000003747719
Tbx22 / Q8K402 / T-box 22 / Q9Y458*ENSMUSG0000003124118


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 IPR002070  Transcription factor, Brachyury
 IPR008967  p53-like transcription factor, DNA-binding
 IPR018186  Transcription factor, T-box, conserved site
 IPR022582  Transcription factor, T-box, region of unknown function
 IPR036960  T-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISO
 biological_processGO:0001501 skeletal system development ISS
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0003151 outflow tract morphogenesis IMP
 biological_processGO:0003167 atrioventricular bundle cell differentiation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007569 cell aging ISO
 biological_processGO:0008284 positive regulation of cell proliferation ISS
 biological_processGO:0008595 anterior/posterior axis specification, embryo ISO
 biological_processGO:0009887 animal organ morphogenesis ISO
 biological_processGO:0010159 specification of animal organ position IDA
 biological_processGO:0019827 stem cell population maintenance IMP
 biological_processGO:0021761 limbic system development IMP
 biological_processGO:0030539 male genitalia development ISS
 biological_processGO:0030540 female genitalia development ISS
 biological_processGO:0030857 negative regulation of epithelial cell differentiation IMP
 biological_processGO:0030879 mammary gland development ISO
 biological_processGO:0032275 luteinizing hormone secretion ISS
 biological_processGO:0035050 embryonic heart tube development IMP
 biological_processGO:0035108 limb morphogenesis IMP
 biological_processGO:0035115 embryonic forelimb morphogenesis ISS
 biological_processGO:0035116 embryonic hindlimb morphogenesis IMP
 biological_processGO:0035136 forelimb morphogenesis ISO
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0042733 embryonic digit morphogenesis ISS
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0045662 negative regulation of myoblast differentiation ISS
 biological_processGO:0045787 positive regulation of cell cycle ISO
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0046884 follicle-stimulating hormone secretion ISS
 biological_processGO:0048332 mesoderm morphogenesis ISS
 biological_processGO:0055007 cardiac muscle cell differentiation IMP
 biological_processGO:0060021 roof of mouth development IGI
 biological_processGO:0060412 ventricular septum morphogenesis IMP
 biological_processGO:0060444 branching involved in mammary gland duct morphogenesis IMP
 biological_processGO:0060596 mammary placode formation IGI
 biological_processGO:0060923 cardiac muscle cell fate commitment IMP
 biological_processGO:0060931 sinoatrial node cell development IMP
 biological_processGO:0090398 cellular senescence ISS
 biological_processGO:2000648 positive regulation of stem cell proliferation IMP
 cellular_componentGO:0005634 nucleus ISO
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding IPI
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0043565 sequence-specific DNA binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Ctnnb1tm1Max/Ctnnb1+,Hesx1tm1Icar/Hesx1tm1Icar
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm1.1Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000298 absent endocardial cushion "absence of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [MGI:CLS]
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Allelic Composition: Ctnnb1tm1Max/Ctnnb1+,Hesx1tm1Icar/Hesx1tm1Icar
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0000555 absent carpal bone "missing the wrist bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54637]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000565 oligodactyly "congenital condition in which some digits or parts of digits are missing" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0000601 small liver "reduced size of the liver" [J:23170]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0000628 abnormal mammary gland development "aberration in the differentiation of the mammary gland during early embryogenesis or during sexual maturity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB

 MP:0000629 absent mammary gland "missing milk-secreting glands of the breast" [J:18378]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0001119 abnormal female reproductive anatomy "anomalous structure of the organs associated with producing offspring in the gender that bears the offspring" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0001142 abnormal vaginal opening "a malformed or absent opening to the genital canal" [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: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Gt(ROSA)26Sortm1(Wnt4)Bhr/Gt(ROSA)26Sor+,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm1.1Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2Moon/Tbx3+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(Mef2c-cre)2Blk/0
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx3tm3.2Moon/Tbx3tm3.2Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0001679 thin apical ectodermal ridge "decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0001722 pale yolk sac "bloodless yolk sac" [J:62571]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 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: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001922 reduced male fertility "reduced ability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61340]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm1.1Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Tbx3tm1.1Moon/Tbx3tm1.1Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 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: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0003074 absent metacarpal bones "missing the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phlanges" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, Anatomy of the Rat:Greene, EC, Hafner Publishing Co, 1935]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0003127 abnormal clitoris morphology "anomaly in the structure of the small, erectile body located at the anterior end of the vulva" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0003137 abnormal impulse conducting system conduction "anomaly in the impulse-conducting system composed of modified cardiac muscle and having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart" [hdene:Howard Dene , Mouse Genome Informatics Curator, J:92050, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 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: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003857 abnormal hindlimb zeugopod morphology 
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0003898 abnormal QRS complex "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarise prior to their contraction" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0003928 increased heart rate variability "increased variation of beat-to-beat intervals of the heart, usually indicitive of a healthy heart" [RGD:Rat Genome Database submission]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 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: Ctnnb1tm1Max/Ctnnb1+,Hesx1tm1Icar/Hesx1tm1Icar
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0004070 abnormal P wave "any anomaly in the P wave which is normally caused by atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions; irregular or absent P waves may indicate arrhythmia and the shape of the P waves may indicate atrial problems" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0004115 abnormal sinoatrial node morphology "structural anomaly in the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atruim that is the source of contraction impulses for the heart" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0004122 sinus arrhythmia "irregular heartbeat related to abnormal function of the sinoatrial node" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6

 MP:0004135 abnormal mammary gland embryonic development "aberration in the differentiation of the mammary gland during early embryogenesis" [smb:Susan M Bello, Mouse Genome Informatics Curator, llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 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: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004360 absent ulna "missing the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0004509 abnormal pelvic girdle bone morphology "any structural anomaly of the bones of the pelvis by which the limbs attach to the axial skeleton " [MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0004576 abnormal foot plate morphology "any structural anomaly of the distal elements of the developing limb of vertebrates that will give rise to the pedal appendages (e.g. hand, foot, paw)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0005108 abnormal ulna morphology "malformation of the medial and larger of the two bones of the forearm" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83132]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

Allelic Composition: Tbx3tm3.2Moon/Tbx3tm3.2Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0005430 absent fibula "missing the lateral and shorter of the two bones of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:86196]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0005599 increased cardiac muscle contractility "greater than the normal ability of the heart muscle to shorten or to develop increased tension " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0006063 abnormal inferior vena cava morphology "structural malformation in the principal vein draining blood from the lower portion of the body" [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: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0006107 abnormal atrioventricular canal morphology "malformation or anomaly in development of the common canal connecting the primordial atrium and ventricle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93610]
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Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0009328 delayed heart looping "late onset of the initiation and/or completion of cardiac looping" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm1Jcib/Tbx3tm1Jcib
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009382 abnormal cardiac jelly morphology "any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ctnnb1tm1Max/Ctnnb1+,Hesx1tm1Icar/Hesx1tm1Icar
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

 MP:0009729 absent tarsus bones "absence of the eight bones of the instep of the paw/foot: tibiale, talus, calcaneus, navicular, 3 cuneiform, and cuboid bones" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0009887 abnormal palatal shelf fusion at midline "any anomaly in the process in which the palatal shelves grow toward the midline and adhere along the medial edge epithelia, forming the midline epithelial seam which disappears in later stages" [PMID:16942766]
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Allelic Composition: Tbx2tm1.1(cre)Vmc/Tbx2tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * NMRI

 MP:0009890 cleft secondary palate "congenital fissure of the tissues normally uniting to form the secondary palate" [PMID:16680722]
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Allelic Composition: Apoetm1Unc/Apoetm1Unc,Cav1tm1Mls/Cav1tm1Mls
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * SJL

Allelic Composition: Tbx2tm1.1(cre)Vmc/Tbx2+,Tbx3tm1.1(cre)Vmc/Tbx3+
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

Allelic Composition: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0010510 absent P wave "absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0010511 shortened PR interval "decrease in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0010512 absent PR interval "absence of the ECG segment representing the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(GATA6-cre)#Jbeb/0
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(Mef2c-cre)2Blk/0
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Tbx3tm3.2Moon/Tbx3tm3.2Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0010637 sinus bradycardia "a type of decreased heart rhythm in which fewer than the normal number of impulses arise from the sinoatrial (SA) node" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 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: Tbx3tm3.2Moon/Tbx3tm3.2Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 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: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Tbx2tm1.1(cre)Vmc/Tbx2+,Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

Allelic Composition: Tbx2tm1.1(cre)Vmc/Tbx2tm1.1(cre)Vmc,Tbx3tm1.1(cre)Vmc/Tbx3+
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tbx3tm1.1(cre)Vmc/Tbx3tm1.1(cre)Vmc
Genetic Background: involves: 129P2/OlaHsd * FVB/N * NMRI

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011101 partial prenatal 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 birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

 MP:0011102 partial embryonic 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 within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Tbx3tm1.1Moon/Tbx3tm1.1Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

Allelic Composition: Tbx3tm1.1Moon/Tbx3tm2Moon
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Tbx3tm3.1Moon/Tbx3tm3.1Moon,Tg(Mef2c-cre)2Blk/0
Genetic Background: involves: 129 * C57BL/6

 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: Tbx3tm2.1Moon/Tbx3tm2.1Moon
Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * FVB/N * SJL

 MP:0013169 small hindlimb buds "reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0013785 abnormal mammary gland bud morphology "any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is elevated above the surrounding ectoderm as a knob or dome; at E13.5, the buds sink into the underlying dermal mesenchyme, and by E14.5 they can no longer be detected externally; in female mouse embryos, five pairs of anlagen or buds are formed along the mammary line between E12.5 and E14.5 by proliferation of basal epidermal cells; while further mammary development is temporarily arrested in females, androgen receptor activation in male embryos causes degeneration of the buds between E13.5 and E15.5; in female mice, further development is resumed at around E15.5 when each bud elongates to form a mammary cord (sprout), invading the underlying fat pad precursor" [http://www.informatics.jax.org/greenbook/frames/frame13.shtml, MGI:Anna, PMID:12558599]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

 MP:0020515 abnormal visceral yolk sac endoderm morphology "any structural anomaly of the portion of the visceral yolk sac consisting of endoderm-derived cells that is responsible for absorption of nutrients" [https://discovery.lifemapsc.com/in-vivo-development/yolk-sac/yolk-sac-endoderm, PMID:20672346]
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Allelic Composition: Il2rgtm1Sug/Y
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

  


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






 

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