ZFIN ID: ZDB-GENE-030805-5
Gene Name: T-box transcription factor 1
Gene Symbol: tbx1    Nomenclature History

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Previous Names: mp:zf637-3-000616, van gogh, vgo, zgc:136724

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 5 Mapping Details/Browsers
Description: Predicted to have several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II activating transcription factor binding activity; and protein homodimerization activity. Involved in animal organ development; pharyngeal system development; and positive regulation of secondary heart field cardioblast proliferation. Predicted to localize to nucleus. Is expressed in several structures, including cardiovascular system; mesoderm; pharyngeal arch; shield; and vestibuloauditory system. Used to study DiGeorge syndrome and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in DiGeorge syndrome; tetralogy of Fallot; and velocardiofacial syndrome. Orthologous to human TBX1 (T-box transcription factor 1).
Genome Resources: Alliance (1),  Gene:368206 (1),  Ensembl(GRCz11):ENSDARG00000031891 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
tm208 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tu285 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-tbx1 N/A 1
    MO2-tbx1 N/A 1
    MO3-tbx1 N/A 2
    MO4-tbx1 N/A 2
    MO5-tbx1 N/A 1
    PHENOTYPE
    Data: 44 figures from 13 publications
    Observed in:
    DISEASE ASSOCIATED WITH tbx1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    DiGeorge syndrome Alliance DiGeorge syndrome 188400
    double outlet right ventricle Alliance Conotruncal anomaly face syndrome 217095
    tetralogy of Fallot Alliance Tetralogy of Fallot 187500
    velocardiofacial syndrome Alliance 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 31)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    antisense ottdart00000060017 (1) 1006
    mRNA tbx1-201 (1)    Ensembl 2343
    tbx1-202 (1)    Ensembl 1500
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tbx1
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(-3.2tbx1:creERT2,cryaa:Venus) cryaatbx1 ERT2Venus Danio rerio 1 2
    Tg(-3.2tbx1:EGFP) tbx1 EGFP Danio rerio 1 2
    Tg(-3.2tbx1:H2B-Dendra2) tbx1 Dendra Danio rerio 1 2
    Tg(nkx2.3:tbx1,myl7:EGFP) myl7nkx2.3 EGFPtbx1 Danio rerio 1 3
    Tg(nkx2.5:tbx1,cryaa:Cerulean) cryaankx2.5 Ceruleantbx1 Danio rerio 1 3
    TgBAC(tbx1:GFP) tbx1 GFP Danio rerio 1 1
    TgBAC(tbx1:mKate2-2A-Cre) tbx1 2ACremKate2 Danio rerio 1 1
    MARKER RELATIONSHIPS
    tbx1 Contained in: [BAC] DKEY-27E18 (1) (order this)
    tbx1 Encodes: [EST] zf637-3-000616 (1)
    [cDNA] MGC:136724 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_183339 (1) 2369 nt
    Genomic GenBank:CR936518 (1) 218719 nt Blast at MegaBLAST
    Polypeptide UniProtKB:B8JJ43 (1) 468 aa
    Sequence Information (all 23)
    ORTHOLOGY for tbx1 ( Chr: 5 )
    CITATIONS (95)