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Chrnb1
Gene Detail
Symbol

Name
ID
Chrnb1
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
MGI:87890
Synonyms
Achr-2, AChR beta, Acrb
Feature Type
protein coding gene
Genetic Map
Chromosome 11
42.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(16)
Sequence Map
Chr11:69784036-69795943 bp, - strand
From VEGA annotation of GRCm38

  11908 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:594  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

HCOP human homology predictions: CHRNB1
Gene Tree: Chrnb1

Human
homologs
CHRNB1, cholinergic receptor, nicotinic, beta 1 (muscle)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1140
neXtProt AC: NX_P11230

Human Synonyms: ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS

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

Disease Associations: (2) Diseases Associated with Human CHRNB1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(8) Targeted(4)
Genomic Mutations involving Chrnb1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Chrnb1 interacts with 62 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (6 records)
Data Summary: Results (138)    Tissues (13)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 138
cDNA source data(29)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN chrnb1    NEW 
Molecular
reagents
All nucleic(40) Genomic(5) cDNA(30) Primer pair(2) Other(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000005993 (Evidence)
Ensembl Gene Model ENSMUSG00000041189 (Evidence)
Entrez Gene 11443 (Evidence)
UniGene 86425
DFCI TC1584608, TC1725925
NIA Mouse Gene Index U032979
Consensus CDS Project CCDS24910.1
International Mouse Phenotyping Consortium Status Chrnb1
Sequences
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 sequences
All sequences(33) RefSeq(8) UniProt(2)
Polymorphisms
All PCR and RFLP(8) : PCR(4) RFLP(4) SNPs within 2kb(112 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006201 Neurotransmitter-gated ion-channel
InterPro IPR018000 Neurotransmitter-gated ion-channel, conserved site
InterPro IPR006202 Neurotransmitter-gated ion-channel ligand-binding
InterPro IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
InterPro IPR027361 Nicotinic acetylcholine-gated receptor, transmembrane domain
InterPro IPR002394 Nicotinic acetylcholine receptor
Protein Ontology PR:000005462 acetylcholine receptor subunit beta
References
(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:216752 Tezuka T, et al., The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses. Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16556-61
All references(69)
Other
accession IDs
MGD-MRK-1037, MGD-MRK-1063

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory