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Tbx1 Gene Detail
Summary
  • Symbol
    Tbx1
  • Name
    T-box 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98493
    NCBI Gene: 21380
  • Gene Overview
    MyGene.info: TBX1
Location & Maps
more
  • Sequence Map
    Chr16:18581713-18586969 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5257 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TBX1, T-box 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TBX1, T-box 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
  • Links
    NCBI Gene ID: 6899
    neXtProt AC: NX_O43435

  • Chr Location
    22q11.21; chr22:19756703-19783593 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Tbx1 mouse models; 4 with human TBX1 associations

Human Disease Mouse Models
       DiGeorge Syndrome; DGS   OMIM: 188400 View 21 models
Velocardiofacial Syndrome   OMIM: 192430 View 5 models
       Autism   OMIM: 209850 View 1 model
Otitis Media, Susceptibility to   OMIM: 166760 View 1 model
       Conotruncal Heart Malformations; CTHM   OMIM: 217095
Tetralogy of Fallot; TOF   OMIM: 187500
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    23 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    194 phenotypes from 19 alleles in 31 genetic backgrounds
    81 phenotypes from multigenic genotypes
    6 images
    125 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    30
  • Chemically induced (ENU)
    1
  • Spontaneous
    1
  • Targeted
    25
  • Transgenic
    3
  • Genomic Mutations
    7 involving Tbx1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    1 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000016143 T-box transcription factor TBX1
  • InterPro Domains
    IPR008967 p53-like transcription factor, DNA-binding
    IPR001699 Transcription factor, T-box
    IPR018186 Transcription factor, T-box, conserved site
Molecular
Reagents
less
  • All nucleic 70
    Genomic 31
    cDNA 17
    Primer pair 16
    Other 6

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-14730
References
more
  • Summaries
    All 225
    Developmental Gene Expression 157
    Diseases 23
    Gene Ontology 51
    Phenotypes 125
  • 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:229008 Escot S, et al., Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. Development. 2016 Feb 15;143(4):582-8

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
05/17/2016
MGI 6.03
The Jackson Laboratory