C57BL/6JCya-Rs1^em1flox/Cya

Rs1, encoding retinoschisin, is crucial in the context of congenital retinoschisis [1,2,3,4,6]. Retinoschisin is key for normal retinal structure and function, and the Rs1 gene's role has been investigated in relation to X-linked retinoschisis (XLRS), a monogenic recessive inherited retinal disease [1,2,3,4,6]. Genetic models, such as knockout mice, have been instrumental in understanding its function [1,3,4].

In Rs1-KO mouse models, there are significant impacts on retinal function. Subretinal delivery of AAV2/4-RS1 improved the ERG b/a ratio and visual performance in the dark, with cones showing more effect than rods [1]. Intravitreal application of AAV8-RS1 in a rat model with Rs1 exon-1 deletion rescued inner and outer plexiform layer cavity formation and reduced outer-retinal structure disruption [3]. Additionally, in a study on traumatic brain injury in mice, RS1-KO showed reduced lesion volume, brain edema, and improved motoric disability, suggesting a role in cerebral SGLT1 regulation after injury [5].

In conclusion, Rs1 is essential for normal retinal development and function, as demonstrated by gene-knockout models in the context of XLRS. These models have also revealed its potential role in the response to traumatic brain injury, providing valuable insights into its biological functions and implications for related diseases.