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Chat Gene Detail
Summary
  • Symbol
    Chat
  • Name
    choline acetyltransferase
  • Synonyms
    B230380D24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88392
    NCBI Gene: 12647
  • Gene Overview
    MyGene.info: CHAT
Location & Maps
more
  • Sequence Map
    Chr14:32408203-32465909 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      57707 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 19.40 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    CHAT, choline O-acetyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CHAT, choline O-acetyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHOACTASE, CMS1A, CMS1A2, CMS6
  • Links
    NCBI Gene ID: 1103
    neXtProt AC: NX_P28329

  • Chr Location
    10q11.23; chr10:49609095-49665104 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Chat mouse models; 1 with human CHAT associations

Human Disease Mouse Models
       Myasthenic Syndrome, Congenital, 6, Presynaptic; CMS6   OMIM: 254210 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
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  • Phenotype Summary
    51 phenotypes from 9 alleles in 9 genetic backgrounds
    11 phenotypes from multigenic genotypes
    98 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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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
Polymorphisms
less
  • SNPs within 2kb
    272 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    Genomic 8
    cDNA 20
    Primer pair 4
    Other 1

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-1967, MGI:2443404
References
more
  • Summaries
    All 329
    Developmental Gene Expression 202
    Diseases 2
    Gene Ontology 12
    Phenotypes 98
  • 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:235148 Anderson DM, et al., Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):E4494-503

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory