This technology is a mouse model of congenital stationary night blindness (CSNB) with impaired bipolar cell function, caused by a Grm6 variant, which can be used to study the development and treatment of CSNB.
There are currently no effective treatments for congenital stationary night blindness (CSNB), a hereditary disease that can result from mutations in genes such as NYX, GRM6, and LRIT3, among others. Current gene therapies targeting the NYX and LRIT3 genes for the treatment of CSNB have demonstrated partial restoration of function in mouse models. Therapies targeting GRM6, the third most common cause of CSNB, in a Grm6-deficient mouse line have not been successful. There is a need to develop mouse models that more closely mimic the CSNB phenotype in humans, allowing for more informed treatment of CSNB.
This technology identifies a mouse model with a no b-wave phenotype attributed to a homozygous missense variant in Grm6. This mutation closely phenocopies congenital stationary night blindness (CSNB) in humans, including the reduction in b-waves, impaired bipolar cell function and development, and reduction in certain retinal layers. This mouse model is comparable to other existing mouse models but offers a better candidate for base editing and genetic editing testing. There is also an analogous human variant reported in the literature, offering superior clinical relevance compared to other models.
IR CU26066
Licensing Contact: Kristin Neuman