| Primary Identifier | MGI:87895 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 11449 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in postsynaptic membrane. Part of acetylcholine-gated channel complex. Is expressed in several structures, including diaphragm; face; limb bud; rib cartilage condensation; and skeletal musculature. Human ortholog(s) of this gene implicated in contractures, pterygia, and spondylocarpotarsal fusion syndrome. Orthologous to human CHRNG (cholinergic receptor nicotinic gamma subunit). PHENOTYPE: Homozygous null mice display perinatal and postnatal lethality, paradoxical breathing, abnormal skeletal muscle morphology, abnormal neuromuscular junction morphology and physiology, and are unable to suckle. [provided by MGI curators] |