| Primary Identifier | MGI:88518 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 12957 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Acts upstream of or within camera-type eye development. Is expressed in several structures, including eye. Used to study age related macular degeneration 1 and cataract 10 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 10 multiple types. Orthologous to human CRYBA1 (crystallin beta A1). PHENOTYPE: Homozygotes for a knock-out allele exhibit microphthalmia, congenital nuclear cataracts, persistent hyaloid artery, and lens defects including impaired lysosomal cargo clearance, increased calcium level, and cytoskeletal defects. Homozygotes for an ENU allele show microphthalmia and total cataracts. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
