| Primary Identifier | MGI:103555 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 12725 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables antiporter activity. Involved in synaptic vesicle lumen acidification. Acts upstream of or within several processes, including chemical synaptic transmission; photoreceptor cell maintenance; and positive regulation of reactive oxygen species biosynthetic process. Located in several cellular components, including endosome membrane; lysosomal membrane; and synaptic vesicle. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; dorsal root ganglion; early conceptus; genitourinary system; and heart. Used to study neuronal ceroid lipofuscinosis 3. Orthologous to human CLCN3 (chloride voltage-gated channel 3). PHENOTYPE: Nullizygous mutations cause degeneration of hippocampal neurons and retinal photoreceptors, reduced body weight, behavioral deficits, gliosis, kyphosis and premature death, and may alter male fertility, ileum morphology, liver physiology, seizure susceptibility, and behavioral response to drugs. [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
