Gucy2e&Gucy2f dKO 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]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions ^[5].

Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) ^[6-7].

Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice 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.