| Primary Identifier | MGI:87890 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 11443 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylcholine binding activity and acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in plasma membrane. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including forelimb bud; limb segment; lung; paraxial mesenchyme; and skeletal musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). 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. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
