Primary Identifier | MGI:2443337 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 238021 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity. Acts upstream of or within eye photoreceptor cell development. Located in actin cytoskeleton and stereocilium. Is expressed in retina. Used to study auditory system disease; retinal degeneration; and retinitis pigmentosa 30. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 30. Orthologous to human FSCN2 (fascin actin-bundling protein 2, retinal). PHENOTYPE: Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age. [provided by MGI curators] |