PDE6A and retinitis pigmentosa 1: One such mutation, c.2009A>G (p.D670G), results in an amino acid substitution that destabilizes the PDE6A protein structure, impairing its catalytic activity and contributing to the pathogenesis of RP in a Pde6anmf363/nmf363 mouse model.[4] This mouse model accurately simulates the phenotype of human retinal degeneration and is widely used in Pde6a gene therapy research.[4, 5]