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Chrnb1 Gene Detail
Summary
  • Symbol
    Chrnb1
  • Name
    cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
  • Synonyms
    Achr-2, AChR beta, Acrb
  • Feature Type
    protein coding gene
  • IDs
    MGI:87890
    NCBI Gene: 11443
  • Gene Overview
    MyGene.info: CHRNB1
Location & Maps
more
  • Sequence Map
    Chr11:69784036-69795943 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11908 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 42.87 cM
  • Mapping Data
    16 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    CHRNB1, cholinergic receptor nicotinic beta 1 subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CHRNB1, cholinergic receptor nicotinic beta 1 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
  • Links
    NCBI Gene ID: 1140
    neXtProt AC: NX_P11230

  • Chr Location
    17p13.1; chr17:7445087-7457613 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human CHRNB1 associations

Human Disease Mouse Models
       Myasthenic Syndrome, Congenital, 2a, Slow-Channel; CMS2A   OMIM: 616313
Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency; CMS2C   OMIM: 616314
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    15 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    8
  • Targeted
    4
  • Genomic Mutations
    2 involving Chrnb1
  • Incidental Mutations
Mice homozygous for a knock-in allele lack all tyrosine residues in the beta subunit intracellular loop, display reduced and simplified neuromuscular junctions, and show defective acetylcholine receptor clustering and anchoring at synapses.
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 OTTMUSG00000005993 VEGA Gene Model | MGI Sequence Detail 11908 C57BL/6J ±  kb
transcript OTTMUST00000013407 VEGA | MGI Sequence Detail 2155 Not Applicable  
polypeptide OTTMUSP00000006209 VEGA | MGI Sequence Detail 501 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    109 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005462 acetylcholine receptor subunit beta
  • InterPro Domains
    IPR006201 Neurotransmitter-gated ion-channel
    IPR018000 Neurotransmitter-gated ion-channel, conserved site
    IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
    IPR027361 Nicotinic acetylcholine-gated receptor, transmembrane domain
    IPR002394 Nicotinic acetylcholine receptor
Molecular
Reagents
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  • All nucleic 40
    Genomic 5
    cDNA 30
    Primer pair 2
    Other 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1037, MGD-MRK-1063
References
more
  • Summaries
    All 70
    Developmental Gene Expression 8
    Gene Ontology 9
    Phenotypes 15
  • Earliest
    J:5098 Dickerman RC, et al., Position of the acatalasemia gene in linkage group V of the mouse. J Hered. 1968 May-Jun;59(3):177-8
  • Latest
    J:232554 Remedio L, et al., Diverging roles for Lrp4 and Wnt signaling in neuromuscular synapse development during evolution. Genes Dev. 2016 May 1;30(9):1058-69

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory