ENSMUSG00000018263


Mus musculus

Features
Gene ID: ENSMUSG00000018263
  
Biological name :Tbx5
  
Synonyms : P70326 / T-box 5 / Tbx5
  
Possible biological names infered from orthology : Q99593
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 119832668
Gene end: 119885219
  
Corresponding Affymetrix probe sets: 10525030 (MoGene1.0st)   1425694_at (Mouse Genome 430 2.0 Array)   1425695_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000144418
Ensembl peptide - ENSMUSP00000018407
Ensembl peptide - ENSMUSP00000143828
NCBI entrez gene - 21388     See in Manteia.
MGI - MGI:102541
RefSeq - XM_017320787
RefSeq - XM_006530280
RefSeq - XM_006530281
RefSeq - XM_006530282
RefSeq - XM_006530283
RefSeq - XM_011248191
RefSeq - NM_011537
RefSeq - XM_006530279
RefSeq Peptide - NP_035667
swissprot - A0A0J9YUZ8
swissprot - A0A0J9YTS5
swissprot - P70326
swissprot - Q5CZX7
Ensembl - ENSMUSG00000018263
  

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
 tbx5aENSDARG00000024894Danio rerio
 tbx5bENSDARG00000092060Danio rerio
 TBX5ENSGALG00000008253Gallus gallus
 TBX5ENSG00000089225Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tbx4 / P70325 / T-box 4 / P57082*ENSMUSG0000000009456
Tbx2 / Q60707 / T-box transcription factor TBX2 / Q13207* / T-box 2*ENSMUSG0000000009332
Tbx3 / P70324 / T-box 3 / O15119*ENSMUSG0000001860431
Tbx1 / T-box 1 / O43435*ENSMUSG0000000909728
Tbx15 / O70306 / T-box transcription factor TBX15 / Q96SF7* / T-box 15*ENSMUSG0000002786828
Tbx20 / Q9ES03 / T-box transcription factor TBX20 / Q9UMR3* / T-box 20*ENSMUSG0000003196527
Tbx18 / T-box 18 / O95935*ENSMUSG0000003241926
Tbx6 / P70327 / T-box transcription factor TBX6 / O95947* / T-box 6*ENSMUSG0000003069926
Tbx22 / Q8K402 / T-box 22 / Q9Y458*ENSMUSG0000003124125
Tbx10 / Q810F8 / T-box transcription factor TBX10 / O75333* / T-box 10*ENSMUSG0000003747725


Protein motifs (from Interpro)
Interpro ID Name
 IPR001699  Transcription factor, T-box
 IPR008967  p53-like transcription factor, DNA-binding
 IPR018186  Transcription factor, T-box, conserved site
 IPR036960  T-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002009 morphogenesis of an epithelium IMP
 biological_processGO:0003166 bundle of His development IGI
 biological_processGO:0003181 atrioventricular valve morphogenesis IGI
 biological_processGO:0003197 endocardial cushion development IGI
 biological_processGO:0003218 cardiac left ventricle formation IMP
 biological_processGO:0003229 ventricular cardiac muscle tissue development IGI
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0003283 atrial septum development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007267 cell-cell signaling IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0030324 lung development IMP
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0030336 negative regulation of cell migration IEA
 biological_processGO:0035115 embryonic forelimb morphogenesis IEA
 biological_processGO:0035136 forelimb morphogenesis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048513 animal organ development ISS
 biological_processGO:0051891 positive regulation of cardioblast differentiation IEA
 biological_processGO:0055007 cardiac muscle cell differentiation IMP
 biological_processGO:0060039 pericardium development IEA
 biological_processGO:0060044 negative regulation of cardiac muscle cell proliferation IEA
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation IGI
 biological_processGO:0060413 atrial septum morphogenesis IGI
 biological_processGO:0072513 positive regulation of secondary heart field cardioblast proliferation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0032993 protein-DNA 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 IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
YAP1- and WWTR1 (TAZ)-stimulated gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000158 absent sternum "missing long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62577]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: Black Swiss

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 MP:0000550 abnormal forelimb morphology "malformation of the entire anterior extremities" [MGI:tc]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse,Tg(Prrx1-cre/ERT2)1Mlgn/0
Genetic Background: Not Specified

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse,Tg(Prrx1-cre/ERT2)1Mlgn/0,Tg(Scx-GFP)1Stzr/0
Genetic Background: Not Specified

 MP:0000551 absent forelimb "missing the entire anterior extremities" [MGI:tc, J:54637]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0000554 abnormal carpal bone morphology "malformation of the nine nodular bones of the joint between the forelimb bones and the front paws consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Anatomy of the Rat:Greene, EC, Hafner Publishing Co, 1935]
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Allelic Composition: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 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: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0001657 abnormal induced morbidity/mortality "differences from the expected diseased state or death caused by an external intervention" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 MP:0001677 absent apical ectodermal ridge "missing the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [J:54637]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 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: Cacna1stm1.1Cann/Cacna1stm1.1Cann
Genetic Background: involves: 129

 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: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: Black Swiss

 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: Bcl2tm1Tsu/Bcl2tm1Tsu
Genetic Background: involves: 129P2/OlaHsd * ICR

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [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: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse,Tg(Kcne1-cre/ERT2)1Imos/0
Genetic Background: involves: CD-1

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 MP:0003257 abnormal abdominal wall "malformation in the margins that enclose the abdominal cavity; the major part is muscular but also includes skin, subcutaneous fat, fascia and the parietal peritoneum" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 MP:0004055 atrial hypoplasia "reduction in cell number of one or both of the two upper chambers of the heart" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:36567]
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Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 MP:0004071 prolonged P wave "increase in the length of time of the P wave electrical impulses" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0004116 abnormal atrioventricular bundle conduction "anomaly in the transfer of cardiac electrical impulses through the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse,Tg(Kcne1-cre/ERT2)1Imos/0
Genetic Background: involves: CD-1

 MP:0004117 abnormal atrioventricular bundle morphology "structural anomaly in the specialized cardiac muscle fibers that originates in the atrioventricular node and extends into the ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 MP:0004123 abnormal impulse conducting system morphology "structural 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" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 MP:0004339 absent clavicle "missing one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0004341 absent scapula "missing either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Espnje/Espn+
Genetic Background: involves: fanciers dancing mouse

 MP:0005503 abnormal tendon morphology "structural anomaly of the fibrous bands or cords of connective tissue at the ends of muscle fibers that attach muscles to bones and other structures" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:45509]
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Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse,Tg(Prrx1-cre/ERT2)1Mlgn/0,Tg(Scx-GFP)1Stzr/0
Genetic Background: Not Specified

 MP:0006141 abnormal atrioventricular node conduction "anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle " [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 MP:0006142 abnormal sinoatrial node conduction "anomaly in the generation or transfer of electrical impulses that trigger contraction of the atria and ventricles" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 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: Tbx5tm1Jse/Tbx5tm1Jse,Tg(Prrx1-cre/ERT2)1Mlgn/0
Genetic Background: Not Specified

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse,Tg(Prrx1-cre/ERT2)1Mlgn/0,Tg(Scx-GFP)1Stzr/0
Genetic Background: Not Specified

 MP:0008950 ventricular tachycardia "paroxysmal rapid beating of the heart originating in an ectopic focus in the heart ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse,Tg(Kcne1-cre/ERT2)1Imos/0
Genetic Background: involves: CD-1

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse
Genetic Background: Not Specified

 MP:0009732 ventricular premature beat "a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse,Tg(Kcne1-cre/ERT2)1Imos/0
Genetic Background: involves: CD-1

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse
Genetic Background: Not Specified

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 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: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 MP:0010404 ostium primum atrial septal defect "interatrial communication (atrial septal defect) through the most anterior and inferior aspect of the atrial septum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
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Allelic Composition: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse,Tg(Kcne1-cre/ERT2)1Imos/0
Genetic Background: involves: CD-1

Allelic Composition: Tbx5tm1.2Jse/Tbx5tm1.2Jse
Genetic Background: Not Specified

 MP:0010520 sinoatrial block "a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0010566 abnormal left posterior bundle morphology "any structural anomaly of the left branch of the atrioventricular bundle that separates at the bundle of His, descends the septal wall of the left ventricle and connects to the terminal Purkinje fiber" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 MP:0010567 abnormal right bundle morphology "any structural anomaly of the right branch of the atrioventricular bundle that separates just below the bundle of His, descends the septal wall of the right ventricle and connects to the terminal Purkinje fibers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

 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: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 MP:0011090 partial perinatal 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 perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 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: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5tm1Jse
Genetic Background: involves: 129S/SvEv

 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: Sall4Gt(XE027)Byg/Sall4+,Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss * C57BL/6

 MP:0011953 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave" [MPD:Molly]
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Allelic Composition: Fgf4tm1Bas/Fgf4tm1Bas
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Tbx5tm1Jse/Tbx5+
Genetic Background: involves: 129S/SvEv

 MP:0013164 abnormal forelimb bud morphology "any structural anomaly of the limb bud that develops into a forelimb (usually the arm or front limb in mammalian species)" [MGI:anna]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

 MP:0013165 absent forelimb buds "absence or loss of the limb bud that normally develops into a forelimb (usually the arm or front limb in mammalian species)" [MGI:anna]
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Allelic Composition: Tbx5tm1.1Jse/Tbx5+
Genetic Background: involves: 129/Sv * Black Swiss

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000708 Kat2b / Q9JHD1 / Histone acetyltransferase KAT2B / Q92831* / lysine acetyltransferase 2B*  / complex / reaction
 ENSMUSG00000027803 Wwtr1 / Q9EPK5 / WW domain containing transcription regulator 1 / Q9GZV5*  / complex / reaction






 

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