This model of achromatopsia has cone photoreceptor cell degeneration and loss of cone-mediated responses beginning by 3 weeks of age, but the rod cells and rod-mediated responses remain normal.Read More +
As early as 3 weeks of age electroretinograms show no cone-mediated responses, although rod-mediated responses are normal. There is normal retina structure but as early as 3 weeks of age vacuolization of a small subset of cells in the photoreceptor layer is found and cone photoreceptor cell degeneration becomes extensive such that very few cone cells can be found at 5 months of age. This mutant is a model for achromatopsia.
The cone photoreceptor function loss 1 mutation arose spontaneously in the CXB1/ByJ recombinant inbred strain at The Jackson Laboratory and was backcrossed onto the C57BL/6J background for five generations before being intercrossed to homozygosity.
|Allele Name||cone photoreceptor function loss 1|
|Gene Symbol and Name||Pde6c, phosphodiesterase 6C, cGMP specific, cone, alpha prime|
|Strain of Origin||CXB1/ByJ|
|Molecular Note||This spontaneous allele contains a 116 bp insertion between exons 4 and 5 (c.864_865ins116) and a 1 bp deletion in exon 7 (c.1042delT) which both result in a frame shift and premature stop codon (p.L348fsX362).|