Rdh12-KO Mouse

Rdh12, also known as Retinol dehydrogenase 12, is an NADPH-dependent retinal reductase that is mainly expressed in the inner segments of photoreceptor cells. Rdh12 plays a crucial role in the visual cycle, which is a series of enzymatic reactions essential for the regeneration of visual pigments and is involved in the detoxification process of retinal aldehyde. Mutations in Rdh12 can lead to the degeneration of retinal photoreceptor cells, thereby affecting visual function. The mutations cause a decrease or loss of enzymatic activity in the retina, which in turn affects the progress of the visual cycle and hinders the regeneration of visual pigments. In addition, the mutations may also lead to the accumulation of retinal aldehyde, further damaging the retinal photoreceptor cells ^[1]. These factors act together, resulting in the degeneration of retinal photoreceptor cells and the loss of visual function. Mutations in Rdh12 are associated with Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa (RP) ^[2].

The Rdh12-KO mouse is a knockout (KO) model in which exons 2-5 of the Rdh12 gene in mice are knocked out using gene-editing technology. This model can be used for the research on the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa (RP) and the development of related treatment methods.