Primary Identifier | MGI:104698 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233187 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of eye lens. Acts upstream of or within lens development in camera-type eye. Predicted to be located in vesicle. Predicted to be active in plasma membrane. Is expressed in embryo; head; inter-parietal bone primordium; and lens. Used to study cataract and cataract 19 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 19 multiple types. Orthologous to human LIM2 (lens intrinsic membrane protein 2). PHENOTYPE: Homozygous mutants exhibit microphthalmia, total lens opacity, disorganized lens fibers, posterior rupturing of lens capsule, and some have vacuolated lens. Heterozygotes exhibit the same dense cataract, but without microphthalmia or lens rupture. [provided by MGI curators] |