Primary Identifier | MGI:88524 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 12967 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of eye lens. Acts upstream of or within lens fiber cell differentiation. Located in cytoplasm and nucleus. Is expressed in several structures, including sensory organ; skeleton; and tarsus. Used to study cataract 2 multiple types and cataract 4 multiple types. Human ortholog(s) of this gene implicated in cataract 4 multiple types and cataract 7. Orthologous to human CRYGD (crystallin gamma D). PHENOTYPE: Heterozygotes for a spontaneous mutation exhibit a dense nuclear cataract and mild microphthalmia by 2-months of age, followed by posterior capsular rupture into the posterior vitreous by 3-months. In homozygotes, the microphthalmia is more pronounced. [provided by MGI curators] |