Primary Identifier | MGI:88519 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 12961 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. A structural constituent of eye lens. Acts upstream of or within camera-type eye development and visual perception. Is expressed in brain and eye. Used to study cataract 3 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 3 multiple types. Orthologous to human CRYBB2 (crystallin beta B2). PHENOTYPE: Mutations in this gene typically lead to progressive cataract formation. Mice homozygous for a null allele exhibit reduced female fertility, impaired ovarian folliculogenesis, abnormal superovulation, altered proliferation and apoptosis of granulosa cells, and dysregulated sex hormone production. [provided by MGI curators] |