| Primary Identifier | MGI:1927126 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 63993 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables choline binding activity and choline transmembrane transporter activity. Involved in acetylcholine biosynthetic process and choline transport. Acts upstream of or within cholinergic synaptic transmission; in utero embryonic development; and neuromuscular synaptic transmission. Located in neuronal cell body and presynaptic membrane. Is expressed in several structures, including central nervous system and diaphragm. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 7; congenital myasthenic syndrome 20; and depressive disorder. Orthologous to human SLC5A7 (solute carrier family 5 member 7). PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology. [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
