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Tbx1
Gene Detail
Symbol

Name
ID
Tbx1
T-box 1
MGI:98493
Feature Type
protein coding gene
Genetic Map
Chromosome 16
11.51 cM
Detailed Genetic Map ± 1 cM


Mapping data(14)
Sequence Map
Chr16:18581713-18586969 bp, - strand
From Ensembl annotation of GRCm38

  5257 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7966  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Tbx1

Human
homologs
Human Homolog TBX1, T-box 1
NCBI Gene ID 6899
neXtProt AC  NX_O43435
Human Synonyms  CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
Human Chr (Location)  22q11.21; chr22:19756703-19783593 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human TBX1
Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Chemically induced (ENU)(1) Spontaneous(1) Targeted(19)
Genomic Mutations involving Tbx1 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries.
 
Human Diseases Modeled Using Mouse Tbx1 (4)    Alleles Annotated to Human Diseases(11)    Phenotype Images(1)
Interactions
Tbx1 interacts with 40 markers (Mir16-1, Mir96, Mir101a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (127 annotations)
Process angiogenesis, anterior/posterior pattern specification, ...
Component nucleus
Function DNA binding, protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (135 records)
Data Summary: Results (365)    Tissues (185)    Images (127)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 219
In situ reporter (knock in) 30
Northern blot 20
RT-PCR 96
cDNA source data(14)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(70) Genomic(31) cDNA(17) Primer pair(16) Other(6)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000009097 (Evidence)
Entrez Gene21380 (Evidence)
UniGene295194
DFCITC1588633, TC1613230
DoTSDT.101134531, DT.40142949, DT.94228563
Consensus CDS ProjectCCDS28023.1
International Mouse Knockout Project StatusTbx1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000009097 Ensembl Gene Model | MGI Sequence Detail 5257 C57BL/6J ±  kb
transcript ENSMUST00000009241 Ensembl | MGI Sequence Detail 1777 Not Applicable 
polypeptide ENSMUSP00000009241 Ensembl | MGI Sequence Detail 488 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(24) UniProt(3)
Polymorphisms
SNPs within 2kb(2 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008967 p53-like transcription factor, DNA-binding
InterPro IPR001699 Transcription factor, T-box
InterPro IPR018186 Transcription factor, T-box, conserved site
Protein Ontology PR:000016143 T-box transcription factor TBX1
References
(Earliest) J:18978 Bollag RJ, et al., An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nat Genet. 1994 Jul;7(3):383-9
(Latest) J:213620 Kong P, et al., Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication. Hum Mol Genet. 2014 Aug 15;23(16):4215-31
All references(204)
Disease annotation references (11)
Other
accession IDs
MGD-MRK-14730

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory