Primary Identifier | MGI:1857014 | Allele Type | Spontaneous |
Gene | Rd3 | Inheritance Mode | Recessive |
Strain of Origin | RBF/DnJ | Is Recombinase | false |
Is Wild Type | false |
description | This mutation causes retinal degeneration. In homozygous mutant mice, development proceeds normally through the second postnatal week. Thereafter, photoreceptor and outer nuclear layers begin to degenerate, and by 8 weeks, no photoreceptor cells remain. Changes in electroretinograms parallel the histologic changes. As of 1998 this is the only type of retinal degeneration reported in mice in which the photoreceptors are initially normal (J:4367). |
molecularNote | A C to T substitution in Rd3 results in a stop codon after residue 106. The truncated protein is initially expressed in in vitro assays but is degraded. |