| Primary Identifier | MGI:109424 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 11304 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-retinylidene-phosphatidylethanolamine flippase activity. Acts upstream of or within phospholipid transfer to membrane; photoreceptor cell maintenance; and visual perception. Located in photoreceptor outer segment. Is expressed in nervous system and retina. Used to study Stargardt disease; age related macular degeneration 2; cone-rod dystrophy 3; and retinitis pigmentosa 19. Human ortholog(s) of this gene implicated in fundus dystrophy and retinal degeneration (multiple). Orthologous to human ABCA4 (ATP binding cassette subfamily A member 4). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [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
