2.2.3. PDE6C

Recently, a NHP spontaneous achromatopsia model was identified with a missense mutation in a cone phosphodiesterase subunit gene (*Pde6c*; c.1694G>A, p.Arg565Gln) [4]. A ffected animals had behavioral changes, reflecting the photophobia seen in human subjects. They also had macula changes including foveal thinning and a subtle bullseye maculopathy. In vitro studies suggested that the mutant protein was expressed and colocalized with its chaperones, Aipl1 and P. However, the mutation alters the catalytic domain, meaning that the mutant protein fails to hydrolyze cGMP.
