Prom1-KO Mouse

The PROM1 gene (Prominin-1) encodes a pentaspan transmembrane glycoprotein known as CD133, which is characterized by its unique structure of five transmembrane domains and two large extracellular loops ^[1]. Primarily expressed in neuroepithelial and epithelial cells, as well as various stem and progenitor cells, the encoded protein localizes specifically to membrane protrusions such as microvilli, cilia, and filopodia, where it plays a critical role in maintaining plasma membrane organization and regulating cellular polarity. Beyond its function as a universal marker for hematopoietic and cancer stem cells, PROM1 is vital for the proper morphogenesis of photoreceptor cells in the retina ^[2]. Consequently, mutations in this gene are most notably associated with inherited retinal degenerations, including Stargardt disease 4, retinitis pigmentosa 41, and various forms of macular dystrophy, highlighting its essential role in visual health and structural integrity at the cellular level ^[3].

Prom1-KO mice are a gene knockout (KO) model in which exons 2-20 of the Prom1 gene in mice have been knocked out using gene-editing technology. This model can be used for studying the pathogenic mechanisms of Stargardt disease (STGD), retinitis pigmentosa (RP), and various forms of macular dystrophy, as well as for the development of relevant treatment methods.