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 8.0.0) 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 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] |