| Primary Identifier | MGI:103581 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 18198 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables PDZ domain binding activity and protein tyrosine kinase activity. Involved in several processes, including positive regulation of Rac protein signal transduction; positive regulation of protein modification process; and positive regulation of skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within several processes, including neuromuscular junction development; positive regulation of motor neuron apoptotic process; and regulation of synaptic assembly at neuromuscular junction. Located in neuromuscular junction and postsynaptic membrane. Is expressed in several structures, including decidua; embryo mesenchyme; limb; nervous system; and skeletal musculature. Used to study congenital myasthenic syndrome 9. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Orthologous to human MUSK (muscle associated receptor tyrosine kinase). PHENOTYPE: Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure. [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
