| Primary Identifier | MGI:1859639 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 54652 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including intracellular calcium ion homeostasis; neuron projection morphogenesis; and visual perception. Predicted to be located in membrane; perikaryon; and photoreceptor outer segment. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum and hippocampus. Used to study congenital stationary night blindness 2A. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F). PHENOTYPE: Homozygous or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology. [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
