ZFIN ID: ZDB-GENE-030805-5
Gene Name: T-box 1
Gene Symbol: tbx1
Previous Names: mp:zf637-3-000616, van gogh, vgo, zgc:136724
Location: Chr: 5   Details
Nomenclature History
GENE EXPRESSION
All Expression Data: 37 figures from 26 publications
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Larval:Protruding-mouth (72.0h-96.0h, 3.5mm)
  anterior lateral plate mesoderm, atrioventricular canal, atrium, cardiac ventricle (all 18) expand
Curated Microarray Expression: GEO (1)
MUTANTS AND TARGETED KNOCKDOWNS
Mutant lines: 29 genotypes
Alleles: tm208, tu285
Knockdown reagents: MO1-tbx1 (1), MO2-tbx1 (1), MO3-tbx1 (1), MO4-tbx1 (1), MO5-tbx1 (1)
PHENOTYPE
Data: 39 figures from 12 publications
Observed in: anatomical system, anterior crista primordium, aortic arch, atrium (all 69) expand

Phenotype of Human Orthologue OMIM Phenotype ID
Conotruncal anomaly face syndrome 217095
DiGeorge syndrome 188400
Tetralogy of Fallot 187500
Velocardiofacial syndrome 192430
GENE ONTOLOGY
Ontology GO Term
Biological Process heart looping (more)
Cellular Component nucleus (more)
Molecular Function protein binding (more)
GO Terms (all 26)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001699 (1)
  • InterPro:IPR008967 (1)
  • InterPro:IPR018186 (1)
  • PROSITE:PS01264 (1)
  • PROSITE:PS01283 (1)
  • PROSITE:PS50252 (1)
  • Pfam:PF00907 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    antisense ottdart00000060017 (1) 1006
    mRNA tbx1-001 (1) 2343
    tbx1-002 (1) 1500
    GENE PRODUCT DESCRIPTION
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tbx1
    Tg(nkx2.3:tbx1,myl7:EGFP), Tg(nkx2.5:tbx1,cryaa:Cerulean)
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    tbx1 Contained in: [BAC] DKEY-27E18 (1)
    tbx1 Encodes: [EST] zf637-3-000616 (1)
    [cDNA] MGC:136724 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_183339 (1) 2369 bp
    Genomic GenBank:CR936518 (1) 218719 bp Blast at MegaBLAST
    Polypeptide UniProtKB:B8JJ43 (1) 468 aa
    Sequence Clusters UniGene:78157 (1)
    Sequence Information (all 27)
    OTHER tbx1 GENE PAGES
  • Gene:368206 (1)
  • VEGA:OTTDARG00000020120 (1)
  • VEGA:OTTDARG00000041627 (1)
  • Ensembl(Zv9):ENSDARG00000031891 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish tbx1 5  
    Human TBX1 22 (22q11.21)
  • OMIM:602054
  • Gene:6899
  • Mouse Tbx1 16 ( 11.51 cM)
  • MGI:98493
  • Gene:21380
  • Orthology Details
    CITATIONS (63)