Primary Identifier | MGI:2448730 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 16467 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable kinesin binding activity. Involved in neuron projection development. Located in mitochondrial membrane and neuron projection. Is expressed in gut; nervous system; and sensory organ. Used to study Cayman type cerebellar ataxia. Human ortholog(s) of this gene implicated in Cayman type cerebellar ataxia and cerebellar ataxia. Orthologous to human ATCAY (ATCAY kinesin light chain interacting caytaxin). PHENOTYPE: Mutants homozygous for a severe allele show progressive impaired coordination and seizures beginning by 10-16 days of age and die by 4 weeks of age. Homozygotes for milder alleles have abnormal gait, slightly diminished body size and reduced male fertility. [provided by MGI curators] |