| Primary Identifier | MGI:103147 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 13424 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables dynein light intermediate chain binding activity. Involved in P-body assembly; positive regulation of cold-induced thermogenesis; and stress granule assembly. Located in cytoplasm and filopodium. Is expressed in several structures, including central nervous system; early conceptus; neural retina; placenta; and trigeminal nerve. Used to study Charcot-Marie-Tooth disease axonal type 2O. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant intellectual developmental disorder 13; and spinal muscular atrophy with lower extremity predominant 1. Orthologous to human DYNC1H1 (dynein cytoplasmic 1 heavy chain 1). PHENOTYPE: Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. Homozygosity for the p.K3334N mutation is embryonic lethal. Heterozygosity affects cerebral cortex cell proliferation and migration and leads to small body and brain size, abnormal locomotion and early death. [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
