| Primary Identifier | MGI:108426 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 16561 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables plus-end-directed microtubule motor activity. Involved in chemical synaptic transmission and organelle transport along microtubule. Located in mitochondrion. Is active in postsynapse and synaptic vesicle membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and skeletal musculature. Used to study Charcot-Marie-Tooth disease type 2A1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Orthologous to human KIF1B (kinesin family member 1B). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness. [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
