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Tbr1 Gene Detail
Summary
  • Symbol
    Tbr1
  • Name
    T-box brain transcription factor 1
  • Synonyms
    T-box brain gene 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:107404
    NCBI Gene: 21375
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:61633274-61644458 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 35.56 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    199 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107404
 protein coding gene Chr2:61633228-61644458 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025767
 protein coding gene Chr2:61479004-61490153 (+)
A/J MGP_AJ_G0025743
 protein coding gene Chr2:59115139-59126318 (+)
AKR/J MGP_AKRJ_G0025713
 protein coding gene Chr2:60715880-60727059 (+)
BALB/cJ MGP_BALBcJ_G0025738
 protein coding gene Chr2:59225413-59236589 (+)
C3H/HeJ MGP_C3HHeJ_G0025499
 protein coding gene Chr2:60814981-60826162 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026185
 protein coding gene Chr2:63290835-63302019 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023589
 protein coding gene Chr2:56618068-56629246 (+)
CAST/EiJ MGP_CASTEiJ_G0024963
 protein coding gene Chr2:60893732-60904748 (+)
CBA/J MGP_CBAJ_G0025479
 protein coding gene Chr2:65685990-65699428 (+)
DBA/2J MGP_DBA2J_G0025610
 protein coding gene Chr2:58691577-58702747 (+)
FVB/NJ MGP_FVBNJ_G0025572
 protein coding gene Chr2:58222753-58233907 (+)
LP/J MGP_LPJ_G0025698
 protein coding gene Chr2:61306709-61317878 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025603
 protein coding gene Chr2:67285280-67297624 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026242
 protein coding gene Chr2:60756634-60767812 (+)
PWK/PhJ MGP_PWKPhJ_G0024704
 protein coding gene Chr2:58572810-58583967 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024511
 protein coding gene Chr2:60888548-60899714 (+)
WSB/EiJ MGP_WSBEiJ_G0025031
 protein coding gene Chr2:61091187-61102350 (+)



Homology
more
  • Human Ortholog
    TBR1, T-box brain transcription factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBR1, T-box brain transcription factor 1
  • Synonyms
    AUTS5, IDDAS, TBR-1, TES-56
  • Links
    NCBI Gene ID: 10716
    neXtProt AC: NX_Q16650
    UniProt: Q16650

  • Chr Location
    2q24.2; chr2:161416297-161425870 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbr1 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    37 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.
Mice homozygous for a targeted null allele fail to feed and die on the second postnatal day displaying disrupted forebrain morphology and a hypoplastic olfactory bulb that lacks normal mitral and tufted cells and shows a striking reduction in mature olfactory bulb projection neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    14
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
    1572
  • Tissues
    295
  • cDNA Data
    17
  • Literature Summary
    787
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035033 Ensembl Gene Model | MGI Sequence Detail 11185 C57BL/6J ±  kb
    transcript ENSMUST00000048934 Ensembl | MGI Sequence Detail 3977 Not Applicable  
    polypeptide ENSMUSP00000046787 Ensembl | MGI Sequence Detail 681 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000016140 T-box brain protein 1
      (term hierarchy)
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding domain superfamily
      IPR036960 T-box superfamily
      IPR001699 T-box transcription factor
      IPR032385 T-box transcription factor-associated
      IPR046360 T-box transcription factor, DNA-binding domain
      IPR018186 Transcription factor, T-box, conserved site
    • GlyGen
      Q64336 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 50
      cDNA 20
      Primer pair 12
      Other 18

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35872
    References
    more
    • Summaries
      All 842
      Developmental Gene Expression 787
      Diseases 2
      Gene Ontology 14
      Phenotypes 37
    • Earliest
      J:27413 Bulfone A, et al., T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. Neuron. 1995 Jul;15(1):63-78
    • Latest
      J:356256 Bertino F, et al., Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus. Cell Rep Med. 2024 Jul 16;5(7):101647
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory