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Tbx6 Gene Detail
Summary
  • Symbol
    Tbx6
  • Name
    T-box 6
  • Feature Type
    protein coding gene
  • IDs
    MGI:102539
    NCBI Gene: 21389
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126380655-126384720 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.25 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    117 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102539
 protein coding gene Chr7:126380655-126384732 (+)
129S1/SvImJ ENSMUSG00200023217
 protein coding gene Chr7:112892213-112896290 (+)
A/J ENSMUSG00195042399
 protein coding gene Chr7:117407550-117411627 (+)
AKR/J ENSMUSG00220019673
 protein coding gene Chr7:110840553-110844631 (+)
BALB/cJ ENSMUSG00180012564
 protein coding gene Chr7:114081412-114085490 (+)
C3H/HeJ ENSMUSG00175013965
 protein coding gene Chr7:114808903-114812980 (+)
C57BL/6NJ ENSMUSG00215017702
 protein coding gene Chr7:114088856-114092933 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030464
 protein coding gene Chr7:128799670-128803736 (+)
CAST/EiJ ENSTCUG00005046220
 protein coding gene Chr7:117303864-117307929 (+)
CBA/J ENSMUSG00210022710
 protein coding gene Chr7:114569988-114574065 (+)
DBA/2J ENSMUSG00185048482
 protein coding gene Chr7:118882841-118886918 (+)
FVB/NJ ENSMUSG00205015212
 protein coding gene Chr7:114528402-114532479 (+)
JF1/MsJ ENSUMUG00000039789
 protein coding gene Chr7:123936111-123940181 (+)
LP/J ENSMUSG00230052388
 protein coding gene Chr7:124992207-124996284 (+)
NOD/ShiLtJ ENSMUSG00190012853
 protein coding gene Chr7:114728962-114733040 (+)
NZO/HlLtJ ENSMUSG00225011819
 protein coding gene Chr7:123221481-123225558 (+)
PWK/PhJ ENSLUMG00010030874
 protein coding gene Chr7:113076301-113080378 (+)
SPRET/EiJ ENSMSPG00010008956
 protein coding gene Chr7:114347449-114351528 (+)
WSB/EiJ ENSIUOG00005023581
 protein coding gene Chr7:115430778-115434855 (+)



Homology
more
  • Human Ortholog
    TBX6, T-box transcription factor 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX6, T-box transcription factor 6
  • Synonyms
    SCDO5
  • Links
    NCBI Gene ID: 6911
    UniProt: O95947

  • Chr Location
    16p11.2; chr16:30085793-30091933 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbx6 mouse models; 1 with human TBX6 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 8 alleles in 11 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    78 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 embryos die during organogenesis exhibiting defects in paraxial mesoderm differentiation, ectopic neural tube development, kinked neural tubes, impaired somite development, hematomas, enlarged tail buds, and laterality defects associated with nodal cilium anomalies. Adult mice heterozygous for a knock-out allele show increased piriform and secondary somatosensory cortex size in both sexes, a male-specific increase in cerebral cortex thickness and retrosplenial granular cortex size, and a female-specific increase in total brain area and area of the hippocampal fimbria. The p.P70T mutation leads to shorter tail.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    16
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
    1024
  • Tissues
    171
  • cDNA Data
    12
  • Literature Summary
    125
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21389 NCBI Gene Model | MGI Sequence Detail 4066 C57BL/6J ±  kb
    transcript NM_011538 RefSeq | MGI Sequence Detail 1731 ZRU/MplStud  
    polypeptide P70327 UniProt | EBI | MGI Sequence Detail 436 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 14
      Primer pair 4
      Other 22
      Antibodies 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14254, MGD-MRK-19388, MGI:98208
    References
    more
    • Summaries
      All 237
      Developmental Gene Expression 125
      Diseases 4
      Gene Ontology 16
      Phenotypes 78
    • Earliest
      J:8119 Theiler K, et al., Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. Anat Embryol (Berl). 1985;173(1):111-6
    • Latest
      J:389705 Hao L, et al., Heart rate and sleep history encode ultradian REM sleep timing. Curr Biol. 2026 Mar 23;36(6):1422-1434.e5
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory