| Primary Identifier | MGI:94906 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13400 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; myosin phosphatase regulator activity; and protein serine/threonine kinase activity. Involved in several processes, including regulation of myotube differentiation; regulation of skeletal muscle contraction by calcium ion signaling; and regulation of synapse structural plasticity. Acts upstream of or within regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction and regulation of sodium ion transport. Located in several cellular components, including bounding membrane of organelle; cytosol; and nuclear membrane. Is expressed in several structures, including branchial arch; hemolymphoid system gland; limb bud; musculature; and somite. Used to study myotonic dystrophy type 1. Human ortholog(s) of this gene implicated in myotonic dystrophy type 1. Orthologous to human DMPK (DM1 protein kinase). PHENOTYPE: Homozygotes for a null mutation exhibit abnormal sodium channel gating in cardiac myocytes, cardiac conduction defects, and late-onset progressive skeletal myopathy. Homozygotes for a second null mutation do not develop skeletal myopathy but do have abnormal muscle intracellular calcium levels. [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
