Primary Identifier | MGI:1861479 | Allele Type | Spontaneous |
Gene | Gja8 | Inheritance Mode | Semidominant |
Strain of Origin | BALB/cJ x AKR/J | Is Recombinase | false |
Is Wild Type | false |
description | In homozygous mutant mice, eyes are microphthalmic, with a dense white cataract present when eyelids opened at the age of 12 days. Histologic changes could be traced back to the 18th day of gestation. Liquefaction of lens contents had begun by 4 days of age, with posterior herniation by 11 days old. Expression in heterozygotes varied with age and with strain of origin (J:4160). |
molecularNote | The mutation in the lens opacity 10 mouse was identifed as a G-to-C missense mutation (C-to-G on forward strand) in the gene, which causes a glycine to arginine substitution at codon 22 of the encoded protein (p.G22R). |