| Primary Identifier | MGI:1914345 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 67095 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables GABA receptor binding activity. Involved in anterograde axonal transport of mitochondrion. Predicted to be located in axonal growth cone; early endosome; and perinuclear region of cytoplasm. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. Is expressed in several structures, including central nervous system; dorsal root ganglion; liver; spleen; and submandibular gland primordium. Used to study Stiff-Person syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 68. Orthologous to human TRAK1 (trafficking kinesin protein 1). PHENOTYPE: Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord. [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
