Gucy2e-KO Mouse

Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells ^[1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 ^[2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration ^[3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed ^[4].

Gucy2e-KO mice are gene knockout (KO) models in which exons 4 to 11 of the Gucy2e gene in mice are knocked out using gene editing technology. This model can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.