| Primary Identifier | MGI:87894 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 11448 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in postsynaptic membrane. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in diaphragm; skeletal musculature; and tongue. Used to study congenital myasthenic syndrome 4A and congenital myasthenic syndrome 4C. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome; congenital myasthenic syndrome 4A; congenital myasthenic syndrome 4B; and congenital myasthenic syndrome 4C. Orthologous to human CHRNE (cholinergic receptor nicotinic epsilon subunit). PHENOTYPE: 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. [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
