| Primary Identifier | MGI:1338761 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 382864 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within establishment of protein localization to membrane; regulation of synaptic assembly at neuromuscular junction; and skeletal muscle acetylcholine-gated channel clustering. Located in neuromuscular junction. Is expressed in diaphragm. Used to study congenital myasthenic syndrome 5. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase). PHENOTYPE: Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation. [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
