| Primary Identifier | MGI:1328313 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 12651 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables choline kinase activity. Acts upstream of or within muscle organ development and phosphatidylcholine biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; heart; and sensory organ. Used to study megaconial type congenital muscular dystrophy. Human ortholog(s) of this gene implicated in intellectual disability; megaconial type congenital muscular dystrophy; muscular dystrophy; narcolepsy; and recurrent hypersomnia. Orthologous to human CHKB (choline kinase beta). PHENOTYPE: Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and 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
