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Chat Gene Detail
Summary
  • Symbol
    Chat
  • Name
    choline O-acetyltransferase
  • Synonyms
    B230380D24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88392
    NCBI Gene: 12647
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:32130160-32187866 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.40 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1440 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88392
 protein coding gene Chr14:32130160-32187946 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021145
 protein coding gene Chr14:25650000-25715760 (-)
A/J MGP_AJ_G0021093
 protein coding gene Chr14:24673509-24732035 (-)
AKR/J MGP_AKRJ_G0021070
 protein coding gene Chr14:25825313-25884454 (-)
BALB/cJ MGP_BALBcJ_G0021097
 protein coding gene Chr14:24854688-24913599 (-)
C3H/HeJ MGP_C3HHeJ_G0020880
 protein coding gene Chr14:25701118-25761125 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021529
 protein coding gene Chr14:26672598-26736183 (-)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0020405
 protein coding gene Chr14:25490747-25557040 (-)
CBA/J MGP_CBAJ_G0020847
 protein coding gene Chr14:27676051-27741285 (-)
DBA/2J MGP_DBA2J_G0020969
 protein coding gene Chr14:24703947-24761796 (-)
FVB/NJ MGP_FVBNJ_G0020953
 protein coding gene Chr14:24666298-24724690 (-)
LP/J MGP_LPJ_G0021038
 protein coding gene Chr14:25974950-26036368 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020979
 protein coding gene Chr14:26889158-26947625 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021562
 protein coding gene Chr14:25612921-25674530 (-)
PWK/PhJ MGP_PWKPhJ_G0020153
 protein coding gene Chr14:24179928-24233572 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019977
 protein coding gene Chr14:25221855-25284225 (-)
WSB/EiJ MGP_WSBEiJ_G0020460
 protein coding gene Chr14:25670713-25731477 (-)



Homology
more
  • Human Ortholog
    CHAT, choline O-acetyltransferase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHAT, choline O-acetyltransferase
  • Synonyms
    CHOACTASE, CMS1A, CMS1A2, CMS6
  • Links
    NCBI Gene ID: 1103
    neXtProt AC: NX_P28329
    UniProt: P28329

  • Chr Location
    10q11.23; chr10:49609095-49667942 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Chat mouse models; 2 with human CHAT associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 9 alleles in 9 genetic backgrounds
    35 phenotypes from multigenic genotypes
    577 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 mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist).
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    12
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
non-membrane-bounded 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
    1153
  • Tissues
    216
  • cDNA Data
    22
  • Literature Summary
    337
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12647 NCBI Gene Model | MGI Sequence Detail 57707 C57BL/6J ±  kb
    transcript NM_009891 RefSeq | MGI Sequence Detail 2810 C57BL/6  
    polypeptide Q03059 UniProt | EBI | MGI Sequence Detail 641 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 8
      cDNA 26
      Primer pair 8
      Other 6

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-1967, MGI:2443404
    References
    more
    • Summaries
      All 939
      Developmental Gene Expression 337
      Diseases 4
      Gene Ontology 12
      Phenotypes 577
    • Earliest
      J:10493 Ishii K, et al., Complementary DNAs for choline acetyltransferase from spinal cords of rat and mouse: nucleotide sequences, expression in mammalian cells, and in situ hybridization. Brain Res Mol Brain Res. 1990 Feb;7(2):151-9
    • Latest
      J:355616 Naffaa MM, et al., A cholinergic signaling pathway underlying cortical circuit activation of quiescent neural stem cells in the lateral ventricle. Sci Signal. 2024 Sep 24;17(855):eadk8810
    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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    10/29/2024
    MGI 6.24     		The Jackson Laboratory