Retinal degeneration 10 (rd10) is a spontaneous missense point mutation in Pde6b (cGMP phosphodiesterase 6B, rod receptor, beta polypeptide). Although similar to rd1, the rd10 phenotype has a later onset and milder retinal degeneration and may provide a better experimental drug therapy model for retinitis pigmentosa.Read More +
Pde6b (cGMP phosphodiesterase 6B, rod receptor, beta polypeptide) encodes the beta subunit of phosphodiesterase (PDE), a peripheral membrane enzyme involved in the phototransduction cascade in rod photoreceptors. Mutations in PDE are associated with retinitis pigmentosa and night blindness. Mice homozygous for retinal degeneration 10 (rd10) exhibit sclerotic retinal vessels at 4 weeks of age, progressive retinal outer nuclear layer degeneration beginning at 16 days, and a progressive decline in rod and cone ERG a- and b- waves. Retinal degeneration is delayed by approximately a week in mice raised in total darkness.Although similar to rd1, the rd10 phenotype has a later onset and milder retinal degeneration and may provide a better experimental drug therapy model for retinitis pigmentosa.
The retinal degeneration 10 mutation was identified as a segregating mutation in the CXB1/TyJ strain at The Jackson Laboratory in approximately 1998. Through selective breeding the rd10 mutation was bred out of the CXB1/TyJ recombinant inbred strain, while at the same time the rd10 mutation was backcrossed onto the C57BL/6J background for 5 generations before intercrossing to homozygosity. Sequence analysis demonstrated that the rd10 allele is a missense point mutation in exon 13.
|Allele Name||retinal degeneration 10|
|Allele Synonym(s)||Pde6brd1-J; rd10|
|Gene Symbol and Name||Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide|
|Gene Synonym(s)||CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; Pdeb; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; r; rd; rd; rd-1; rd1; rd1; rd10; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10|
|Strain of Origin||CXB1/ByJ|
|Molecular Note||An initial complementation test with Pde6b rd1 demonstrated allelism. Sequence analysis shows that the rd10 mutation is caused by a missense mutation in exon 13, which encodes the beta subunit of the protein.|
When using the B6.CXB1-Pde6brd10/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #004297 in your Materials and Methods section.
|Homozygous for Pde6b<rd10>|
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