| Primary Identifier | MGI:108391 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 16560 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Involved in anterograde synaptic vesicle transport. Located in neuron projection and neuronal cell body. Is expressed in genitourinary system; nervous system; and sensory organ. Used to study hereditary spastic paraplegia 30. Human ortholog(s) of this gene implicated in NESCAV syndrome; hereditary sensory neuropathy; hereditary sensory neuropathy type 2C; hereditary spastic paraplegia; and hereditary spastic paraplegia 30. Orthologous to human KIF1A (kinesin family member 1A). PHENOTYPE: Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis [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
