Chrne
Gene Detail

Symbol Name ID

Chrne cholinergic receptor, nicotinic, epsilon polypeptide MGI:87894

STS

D11Mit210

Synonyms

AChrepsilon, Acre

Feature Type

protein coding gene

Genetic Map

Chromosome 11

43.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr11:70614883-70619216 bp, - strand From VEGA annotation of GRCm38   4334 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:60  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Chrne

Human homologs

Human Homolog		CHRNE, cholinergic receptor, nicotinic, epsilon (muscle)
NCBI Gene ID		1145
neXtProt AC		NX_Q04844
Human Synonyms		ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS
Human Chr (Location)		17p13.2; chr17:4801064-4806369 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CHRNE

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

Homozygotes for targeted null mutations exhibit reduced AChR receptor density at neuromuscular synapses, impaired neuromuscular transmission, progressive muscular weakness and atrophy, and lethality at 2-3 months of age.

 
Human Diseases Modeled Using Mouse Chrne (2)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	ion transport, regulation of membrane potential, ...
Component	cell junction, integral to membrane, ...
Function	acetylcholine-activated cation-selective channel activity, extracellular ligand-gated ion channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (10)    Tissues (10)   
Theiler Stages: 18, 21, 23, 25, 28

Assay Type	Results
RT-PCR	10

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(16) Genomic(5) cDNA(8) Primer pair(1) Other(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000006059 (Evidence)
Ensembl Gene Model	ENSMUSG00000014609 (Evidence)
Entrez Gene	11448 (Evidence)
UniGene	4980
DFCI	TC1588449
DoTS	DT.110511436, DT.522645
NIA Mouse Gene Index	U033005
Consensus CDS Project	CCDS24956.1
International Mouse Knockout Project Status	Chrne

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006059	VEGA Gene Model | MGI Sequence Detail	4334	C57BL/6J
transcript	OTTMUST00000013660	VEGA | MGI Sequence Detail	1616	Not Applicable
polypeptide	OTTMUSP00000006331	VEGA | MGI Sequence Detail	494	Not Applicable

All sequences(34) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(20 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR002394	Nicotinic acetylcholine receptor
Protein Ontology	PR:000005467	acetylcholine receptor subunit epsilon

References

(Earliest) J:8485 Buonanno A, et al., A universal oligonucleotide probe for acetylcholine receptor genes. Selection and sequencing of cDNA clones for the mouse muscle beta subunit. J Biol Chem. 1986 Dec 15;261(35):16451-8
(Latest) J:184452 Mouslim C, et al., A role for the calmodulin kinase II-related anchoring protein (alphakap) in maintaining the stability of nicotinic acetylcholine receptors. J Neurosci. 2012 Apr 11;32(15):5177-85
All references(64)

Other accession IDs

MGD-MRK-1069