| Primary Identifier | MGI:1347049 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 26372 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable voltage-gated chloride channel activity. Predicted to be involved in chloride transport and response to mechanical stimulus. Predicted to be located in late endosome membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including brain; ganglia; heart; oocyte; and trigeminal nerve. Used to study neuronal ceroid lipofuscinosis 3. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human CLCN6 (chloride voltage-gated channel 6). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease). [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
