Prph2-KO Mouse

The Peripherin 2 (PRPH2) gene encodes a protein that is a member of the transmembrane 4 superfamily, also known as the tetraspanin family, the majority of which are cell-surface proteins characterized by the presence of four hydrophobic structural domains that mediate signal transduction events and play important regulatory roles in cell development, activation, growth, and motility. Peripheral protein 2 is a cell surface glycoprotein found in the retinal optic rod and cone receptor cells of the eye. This protein is usually located in the limbic region of the outer segmental disc containing retinas, proteins responsible for initiating visual phototransduction at the reception of light signals. Peripheral protein 2 can act as an adhesion molecule involved in stabilizing and compacting the ocular outer segmental disc or maintaining the curvature of the limbus, and thus this protein is essential for the morphogenesis of the outer segmental disc and the transmission of light signals ^[1-2]. Defects in the PRPH2 gene have been associated with central and peripheral retinal degeneration, and common disorders include autosomal dominant retinitis pigmentosa (RP), Age-related macular degeneration (AMD), and macular dystrophies (MDs) ^[2].

This strain is a mouse Prph2 knockout model that uses gene editing technology to knock out the homolog of the human PRPH2 gene in mice. The deletion of Prph2 gene expression in mice leads to abnormalities in the morphogenesis of the outer segmental disc and the conduction of light signals, causing more delayed retinal degeneration (RD), and the progression of ocular retinal disease in this model is similar to that of mice carrying the RD2 spontaneous mutation in the mouse Prph2 gene ^[3], which is a class of animal models of delayed retinal degeneration.