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Tbx1 Gene Detail
Summary
  • Symbol
    Tbx1
  • Name
    T-box 1
  • Synonyms
    nmf219
  • Feature Type
    protein coding gene
  • IDs
    MGI:98493
    NCBI Gene: 21380
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18399729-18409412 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, Syntenic
  • Mapping Data
    15 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 Chr16:18399729-18409421 (-)
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 transcription factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX1, T-box transcription factor 1
  • Synonyms
    CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS
  • Links
    NCBI Gene ID: 6899
    UniProt: O43435

  • Chr Location
    22q11.21; chr22:19756703-19783593 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with Tbx1 mouse models; 8 with human TBX1 associations

Human Disease Mouse Models
      
IDs
 View 24 models
IDs
 View 6 models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
 View 1 model
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    19 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    249 phenotypes from 21 alleles in 39 genetic backgrounds
    99 phenotypes from multigenic genotypes
    11 images
    294 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
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
neoplasm
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
less
  • All GO Annotations
    165
  • GO References
    62
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1533
  • Tissues
    298
  • cDNA Data
    19
  • Literature Summary
    232
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21380 NCBI Gene Model | MGI Sequence Detail 9684 C57BL/6J ±  kb
    transcript NM_001373938 RefSeq | MGI Sequence Detail 3333 ZRU/MplStud  
    polypeptide P70323 UniProt | EBI | MGI Sequence Detail 479 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 110
      Genomic 31
      cDNA 26
      Primer pair 23
      Other 30

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14730, MGI:3032509
    References
    more
    • Summaries
      All 481
      Developmental Gene Expression 232
      Diseases 19
      Gene Ontology 62
      Phenotypes 294
    • 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:373139 Ahumada Saavedra JT, et al., Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models. PLoS Genet. 2025 Sep;21(9):e1011873
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/30/2025
    MGI 6.24     		The Jackson Laboratory