Approximately 93 years ago at the zoological laboratories of Harvard University, Keeler, a medical geneticist, discovered a retina from a male albino mouse that was completely devoid of visual cells (rods). This rodless mouse was to be the first ever reported murine model of retinal degeneration. Over the years, naturally occurring retinal degeneration mouse mutants have been identified in several common laboratory inbred lines including FVB/NJ (Pde6brd1) and C57BL/6N (Crb1rd8). It is therefore imperative that vision researchers employing other genetically induced retinal degeneration models and experimental models such as laser-induced choroidal neovascularization (CNV) or bright white-light exposure screen for such naturally occurring mutations to prevent costly misinterpretations. In this regard, we describe herein simple molecular-based techniques for screening the presence of some commonly encountered rd mutations (Pde6brd1, Crb1rd8, Pde6brd10, and Rpe65rd12).
Keywords: Mice; Molecular techniques; Mutations; Retinal degeneration.