Primary Identifier | MGI:97526 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 18588 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable spectrin binding activity. Acts upstream of or within positive regulation of G protein-coupled receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in photoreceptor outer segment membrane. Is expressed in eye and retina outer nuclear layer. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa 57. Orthologous to human PDE6G (phosphodiesterase 6G). PHENOTYPE: Mice homozygous for disruptions in this gene have poorly developed photoreceptors that degenerate with age. [provided by MGI curators] |