| Primary Identifier | MGI:88392 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 12647 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables choline O-acetyltransferase activity. Acts upstream of or within several processes, including adult walking behavior; establishment of synaptic specificity at neuromuscular junction; and rhythmic excitation. Located in axon; cytoplasm; and neuronal cell body. Is expressed in several structures, including alimentary system; cranium; heart; nervous system; and retina. Used to study congenital myasthenic syndrome 6. Human ortholog(s) of this gene implicated in Alzheimer's disease and congenital myasthenic syndrome 6. Orthologous to human CHAT (choline O-acetyltransferase). PHENOTYPE: Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis(drop wrist). [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
