| Primary Identifier | MGI:2442632 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 319734 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and detection of light stimulus involved in visual perception. Predicted to act upstream of or within calcium ion transport and monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; hippocampus; and telencephalon. Human ortholog(s) of this gene implicated in retinal cone dystrophy 4. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4). PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [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
