| First Author | Chang B | Year | 2024 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:350383 |
| Mgi Id | MGI:7662970 | Citation | Chang B (2024) The retinal degeneration 26 (rd26) mutation. MGI Direct Data Submission |
| abstractText | The retinal degeneration 26 (rd26) heritable mutant phenotype was discovered in our ocular phenotypes screening program in April 2015 in a male mouse of strain STOCK Terctm1Rdp Dmdmdx/J (JAX Stock No. 018915) that presented with late-onset progressive retinal degeneration at 4 months of age (Figure 1B and 1E), but the female mouse from that strain was normal at 4 month of age (Figure 1A). We mated the mutant male mouse from Stock No. 018915 with C57BL/6J and all F1 mice had normal retinas. Then we mated the mutant male mouse again to the F1 female mice and the retinal degeneration phenotype was recovered in half of the backcross generation. We developed a C57BL/6J (B6) congenic strain, B6.Cg-rd26/Boc (JAX Stock No. 036973), by backcross-intercross breeding the rd26 allele onto C57BL/6J for 5 cycles to generation NE5 then sibling mating to homozygosity. Mice homozygous for rd26 begin to show retinal degeneration at about 4 months of age (Figure 1B and 1E) in OCT and histology. By 10 months of age homozygotes showed ~90% photoreceptor loss (Figure 1D and 1F). Electroretinograms (ERG) of rd26 homozygotes showed abnormal rod and cone ERG responses (lower ERG) at 3 months of age and at 10 months of age no rod or cone ERG responses could be detected (data no show). Linkage crosses with DBA/2J showed this spontaneous mutation to be an autosomal recessive mutation, but we have not mapped it yet. |
