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 NCBI 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 dog; 1 zebrafish

Gene Tree: Tbx1

Human homologs

Human Homolog		TBX1, T-box 1
NCBI Gene ID		6899
neXtProt AC		NX_O43435
Human Synonyms		CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS
Human Chr (Location)		22q11.21; chr22:19744226-19771116 (+)  GRCh37.p10
Disease Associations		(7) Diseases Associated with Human TBX1

Alleles and phenotypes

All alleles(18) : Targeted(17) Spontaneous(1)
 

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(9)   

Gene Ontology (GO) classifications

All GO classifications: (126 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: (129 records)
Data Summary: Results (288)    Tissues (162)    Images (100)
Theiler Stages: 5, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	168
In situ reporter (knock in)	26
Northern blot	12
RT-PCR	82

cDNA source data(14)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(62) Genomic(31) cDNA(15) Primer pair(12) Other(4)
Microarray probesets(2)

Other database links

Ensembl Gene Model	ENSMUSG00000009097 (Evidence)
Entrez Gene	21380 (Evidence)
UniGene	295194
DFCI	TC1588633, TC1613230
DoTS	DT.101134531, DT.40142949, DT.94228563
Consensus CDS Project	CCDS28023.1
International Mouse Knockout Project Status	Tbx1

Sequences

Length	Strain/Species
genomic	21380	NCBI Gene Model | MGI Sequence Detail	5257	C57BL/6J
transcript	NM_011532	RefSeq | MGI Sequence Detail	1777	Not Specified
polypeptide	P70323	UniProt | EBI | MGI Sequence Detail	479	Not Applicable

All sequences(21) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(1 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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

Graphical View of Protein Domain Structure

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:191130 Maynard TM, et al., 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum Mol Genet. 2013 Jan 15;22(2):300-12
All references(191)

Other accession IDs

MGD-MRK-14730