Primary Identifier | MGI:1857597 | Allele Type | Spontaneous |
Gene | Crygb | Inheritance Mode | Dominant |
Strain of Origin | (101/El x C3H/El)F1 | Is Recombinase | false |
Is Wild Type | false |
description | Both homozygotes and heterozygotes are fully viable and fertile, and penetrance is complete in both. The nuclear opacity is seen as a white spot in the eye. The cataractous lens shows decreased activity of four glycolytic enzymes, a decreased amount of glutathione disulfide, and loss of a single protein, probably a gamma-crystallin, as revealed by isoelectric focusing (J:7589, J:23992). |
molecularNote | An 11 bp deletion combined with a 4 bp insertion in exon 3 of Crygb causes a frameshift at codon 139 that leads to premature termination at codon 145 and produces a truncated gene product. |