| Primary Identifier | MGI:87885 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 11435 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to acetylcholine binding activity; acetylcholine receptor activity; and acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in cell surface and plasma membrane. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including diaphragm; inner ear; limb bud; skeletal musculature; and tongue. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 1A and congenital myasthenic syndrome 1B. Orthologous to human CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, kyphosis, carpotosis, absent miniature and nerve-evoked endplant potential, increased motor neuron number, and abnormal neuromuscular synapse. [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
