Retinal degeneration 1 pde6brd1

Retinal degeneration (Pde6brd1)

Mice homozygous for the rd1 mutation have an early onset severe retinal degeneration due to a murine viral insert and a second nonsense mutation in exon 7 of the Pde6b gene in all mouse strains with the rd1 mutation. Since the rd1 is a common retinal degeneration in mice, it is important to avoid mouse strains or stocks carrying the rd1 allele or exclude the rd1 allele contamination in studying new retinal disorders. The mice with rd1 mutation can be easily typed by phenotype with vessel attenuation and pigment patch in the fundus and genotype with Dde I RFLP. Mutations in the gene encoding the β subunit of cGMP-PDE have been found in human patients suffering from autosomal recessive retinitis pigmentosa (OMM 180072), a disorder bearing phenotypic resemblance to the mouse Pde6brd1 phenotype.