Chrnb1 MGI Mouse Gene Detail - MGI:87890 - cholinergic receptor nicotinic beta 1 subunit

Symbol

Chrnb1
Name

cholinergic receptor nicotinic beta 1 subunit
Synonyms

Achr-2, AChR beta, Acrb

Feature Type

protein coding gene
IDs

MGI:87890
NCBI Gene: 11443
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:69674862-69686742 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 42.87 cM
Mapping Data

16 experiments

SNPs within 2kb

274 from dbSNP Build 142
Strain Annotations

18
PCR

4
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_87890	protein coding gene	Chr11:69674862-69686769 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018554	protein coding gene	Chr11:70262015-70275788 (-)
A/J	MGP_AJ_G0018522	protein coding gene	Chr11:67605010-67616910 (-)
AKR/J	MGP_AKRJ_G0018491	protein coding gene	Chr11:69622837-69636194 (-)
BALB/cJ	MGP_BALBcJ_G0018494	protein coding gene	Chr11:67930213-67942599 (-)
C3H/HeJ	MGP_C3HHeJ_G0018307	protein coding gene	Chr11:69654897-69667964 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018945	protein coding gene	Chr11:72385837-72398031 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016590	protein coding gene	Chr11:64525926-64539033 (-)
CAST/EiJ	MGP_CASTEiJ_G0017862	protein coding gene	Chr11:69893800-69905606 (-)
CBA/J	MGP_CBAJ_G0018280	protein coding gene	Chr11:75624586-75641542 (-)
DBA/2J	MGP_DBA2J_G0018389	protein coding gene	Chr11:67186890-67199198 (-)
FVB/NJ	MGP_FVBNJ_G0018379	protein coding gene	Chr11:66828863-66840724 (-)
LP/J	MGP_LPJ_G0018459	protein coding gene	Chr11:70824566-70839668 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018402	protein coding gene	Chr11:76234422-76247865 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018987	protein coding gene	Chr11:69886801-69898679 (-)
PWK/PhJ	MGP_PWKPhJ_G0017636	protein coding gene	Chr11:67837787-67849847 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017426	protein coding gene	Chr11:69707724-69719617 (-)
WSB/EiJ	MGP_WSBEiJ_G0017916	protein coding gene	Chr11:69553654-69565461 (-)

Human Ortholog

CHRNB1, cholinergic receptor nicotinic beta 1 subunit

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CHRNB1, cholinergic receptor nicotinic beta 1 subunit
Synonyms

ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
Links

HGNC:1961

NCBI Gene ID: 1140

neXtProt AC: NX_P11230

UniProt: P11230
Chr Location

17p13.1; chr17:7445061-7457710 (+) GRCh38

MGI Vertebrate Homology

Chrnb1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CHRNB1
Gene Tree

Chrnb1

Diseases

2 with human CHRNB1 associations

				Human Disease	Mouse Models
				congenital myasthenic syndrome 2A IDs congenital myasthenic syndrome 2A DOID:0110681 OMIM:616313
				congenital myasthenic syndrome 2C IDs congenital myasthenic syndrome 2C DOID:0110680 OMIM:616314

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 2 alleles in 2 genetic backgrounds
20 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

16
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

5
Targeted

4
Genomic Mutations

2 involving Chrnb1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

59
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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

859
Tissues

25
cDNA Data

31
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN chrnb1

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All Sequences

40
RefSeq

7
UniProt

2
CCDS

CCDS24910.1

Ensembl

ENSMUSG00000041189 (Evidence)
NCBI Gene

11443

			Length	Strain/Species	Flank
genomic	11443	NCBI Gene Model \| MGI Sequence Detail	11881	C57BL/6J	± kb
transcript	NM_009601	RefSeq \| MGI Sequence Detail	2128	ZRU/MplStud
polypeptide	P09690	UniProt \| EBI \| MGI Sequence Detail	501	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000005462 acetylcholine receptor subunit beta

(term hierarchy)
InterPro Domains

IPR038050 Neuronal acetylcholine receptor

IPR006201 Neurotransmitter-gated ion-channel

IPR018000 Neurotransmitter-gated ion-channel, conserved site

IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain

IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily

IPR006029 Neurotransmitter-gated ion-channel transmembrane domain

IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily

IPR002394 Nicotinic acetylcholine receptor
GlyGen

P09690 1 site

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All nucleic 43

Genomic 5

cDNA 32

Primer pair 3

Other 3

Microarray probesets 3

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MGD-MRK-1037, MGD-MRK-1063

Summaries

All 96

Developmental Gene Expression 10

Gene Ontology 12

Phenotypes 20
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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Chrnb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr108839	Chr11:69688187-69688209 (-)	-1,456 bp
Tssr108838	Chr11:69687985-69688005 (-)	-1,253 bp
Tssr108837	Chr11:69686756-69686773 (-)	-23 bp
Tssr108836	Chr11:69686721-69686748 (-)	7 bp

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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