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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18581704-18590671 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.51 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98493
protein coding gene Chr16:18581704-18590671 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022614
protein coding gene Chr16:15821462-15826718 (-)
A/J MGP_AJ_G0022575
protein coding gene Chr16:15033445-15038701 (-)
AKR/J MGP_AKRJ_G0022552
protein coding gene Chr16:15630347-15635603 (-)
BALB/cJ MGP_BALBcJ_G0022580
protein coding gene Chr16:15183105-15188361 (-)
C3H/HeJ MGP_C3HHeJ_G0022347
protein coding gene Chr16:15786249-15791505 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023029
protein coding gene Chr16:16106594-16111850 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020549
protein coding gene Chr16:15068393-15073653 (-)
CAST/EiJ MGP_CASTEiJ_G0021874
protein coding gene Chr16:15694481-15699740 (-)
CBA/J MGP_CBAJ_G0022316
protein coding gene Chr16:16828047-16833303 (-)
DBA/2J MGP_DBA2J_G0022448
protein coding gene Chr16:14947174-14952430 (-)
FVB/NJ MGP_FVBNJ_G0022423
protein coding gene Chr16:15008864-15014111 (-)
LP/J MGP_LPJ_G0022515
protein coding gene Chr16:15569960-15575216 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022445
protein coding gene Chr16:16432354-16437606 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023040
protein coding gene Chr16:15561120-15566376 (-)
PWK/PhJ MGP_PWKPhJ_G0021616
protein coding gene Chr16:15218747-15224007 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021444
protein coding gene Chr16:15514587-15519842 (-)
WSB/EiJ MGP_WSBEiJ_G0021920
protein coding gene Chr16:15555963-15561201 (-)



Homology
more
  • Human Ortholog
    TBX1, T-box 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TBX1, T-box 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
  • Links
    NCBI Gene ID: 6899
    neXtProt AC: NX_O43435
    UniProt: O43435

  • Chr Location
    22q11.21; chr22:19756703-19783593 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7966
    1 human;1 mouse;1 rat;1 chimpanzee;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TBX1
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with Tbx1 mouse models; 4 with human TBX1 associations

Human Disease Mouse Models
      
IDs
View 21 models
IDs
View 5 models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    15 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    203 phenotypes from 20 alleles in 32 genetic backgrounds
    84 phenotypes from multigenic genotypes
    11 images
    161 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21380 NCBI Gene Model | MGI Sequence Detail 8968 C57BL/6J ±  kb
    transcript NM_001285472 RefSeq | MGI Sequence Detail 1858 C57BL/6  
    polypeptide P70323 UniProt | EBI | MGI Sequence Detail 479 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding
      IPR036960 T-box superfamily
      IPR001699 Transcription factor, T-box
      IPR018186 Transcription factor, T-box, conserved site
    Molecular
    Reagents
    less
    • All nucleic 77
      Genomic 31
      cDNA 19
      Primer pair 17
      Other 10

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14730
    References
    more
    • Summaries
      All 304
      Developmental Gene Expression 177
      Diseases 15
      Gene Ontology 53
      Phenotypes 161
    • 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:265457 Zamponi E, et al., Nrf2 stabilization prevents critical oxidative damage in Down syndrome cells. Aging Cell. 2018 Oct;17(5):e12812

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory