Gucy2f-KO Mouse

Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). RetGC2 is a retina-specific guanylate cyclase responsible for synthesizing cyclic guanosine monophosphate (cGMP) in photoreceptors. cGMP plays a crucial role in the retinal phototransduction process, participating in the photoreceptor's light signal transduction and light adaptation processes. 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) ^[1-2]. Therefore, the study of Gucy2f is of great significance for understanding the pathogenesis of retinal diseases and developing new treatment methods. In addition, researchers have also found that somatic mutations of the GUCY2F gene exist in human cancers, including breast cancer, lung cancer, and pancreatic cancer ^[3]. These studies indicate that the GUCY2F gene may play an important role in the occurrence and development of cancer. The GUCY2F gene is also associated with pulmonary arterial hypertension, a severe complication of lung diseases that can lead to heart failure and death ^[4].

The Gucy2f-KO mouse is a gene-knockout (KO) model in which exon 3 of the Gucy2f gene in mice is knocked out using gene-editing technology. This model can be used for research on the pathogenic mechanisms of retinal diseases, such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD), as well as the development of relevant treatment methods.