| Primary Identifier | MGI:88516 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12955 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including amyloid-beta binding activity; protein homodimerization activity; and unfolded protein binding activity. Acts upstream of or within several processes, including lens development in camera-type eye; response to hydrogen peroxide; and tubulin complex assembly. Located in several cellular components, including Z disc; cytosol; and mitochondrion. Is expressed in several structures, including brain; embryo mesenchyme; eye; heart; and musculature. Used to study cataract 16 multiple types and myofibrillar myopathy 2. Human ortholog(s) of this gene implicated in cataract 16 multiple types; dilated cardiomyopathy 1II; fatal infantile hypertonic myofibrillar myopathy; and myofibrillar myopathy 2. Orthologous to human CRYAB (crystallin alpha B). PHENOTYPE: Mice homozygous or heterozygous for a knock-in allele exhibit decreased grip strength and develop cataracts and myopathy; some mice display unilateral corneal abnormalities and small eyes. Homozygosity for the p.R123W mutation leads to hypertrophic cardiomyopathy after trans-aortic constriction. [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
