Pde6b KO Mouse

Phosphodiesterase 6B (PDE6B) is a protein-coding gene that encodes a protein that is part of the cGMP phosphodiesterase (cGMP-PDE) protein complex, a peripheral membrane isomerase consisting of α, β, and γ subunits, and PDE6B encodes the β subunit of this protein^[1]. cGMP-PDE complexes are present in optic rod photoreceptor cells as part of the photoreceptor tissue at the back of the eye (retina), and the optic rod is specifically responsible for transmitting visual signals from the eye to the brain under low light conditions. When light enters the eye, photon absorption can trigger a signaling cascade in the optic rod photoreceptors that activate cGMP-PDE, leading to rapid cGMP hydrolysis, closure of cGMP-gated cation channels, and cellular hyperpolarization; these changes trigger the closure of channels in the cell membrane, resulting in the transmission of signals to the brain that is referred to as vision. In humans, mutations in the PDE6B gene lead to Retinitis pigmentosa (RP) and congenital stationary night blindness (CSNB) ^[2].

This strain is a mouse Pde6b knockout model that uses gene editing technology to knock out the homolog of the human PDE6B gene in mice. The deletion of Pde6b gene expression in mice leads to dysfunction of the cGMP-PDE complex and rapid apoptosis of optic rod cell photoreceptors, causing severe retinal degeneration (RD), and the progression of ocular retinal disease in this model is similar to that of mice carrying the RD1 spontaneous mutations in the mouse Pde6b gene^[3], which is a class of animal models of early-onset retinal degeneration.