Primary Identifier | MGI:88515 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 12954 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; structural molecule activity; and unfolded protein binding activity. Acts upstream of or within several processes, including camera-type eye morphogenesis; regulation of macromolecule metabolic process; and tubulin complex assembly. Located in cytoplasm. Is expressed in several structures, including alimentary system; eye; genitourinary system; heart; and nervous system. Used to study cataract 9 multiple types. Human ortholog(s) of this gene implicated in cataract 9 multiple types. Orthologous to human CRYAA (crystallin alpha A). PHENOTYPE: Homozygotes for a targeted null mutation have small lenses that develop progressive opacity beginning in the nucleus. Homozygotes for spontaneous or ENU-induced mutations have normal sized lenses with a white nuclear cataract by weaning age that expands progressively. [provided by MGI curators] |