| First Author | Chang B | Year | 2023 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:334762 |
| Mgi Id | MGI:7464180 | Citation | Chang B (2023) Mouse Retinoschisis 1. MGI Direct Data Submission |
| abstractText | We identified a new mutation named mrs1 (mouse retinoschisis 1) in a mouse model with a severe retinal INL split phenotype manifesting in early adulthood. Genetic analysis showed that the mrs1 is caused by a sex-linked recessive mutation that mapped to mouse Chromosome X between DxMit155 and DXMit186, where the mouse retinoschisis 1 (Rs1) gene is located. The Rs1 gene expression (mRNA level) is much reduced and the RS1 protein is completely missed by RS1 antibody stain in immunohistochemistry (IHC). But mRNA (cDNA) sequence analysis did not reveal any sequence alteration compared to wild type control. Although the molecular lesion has not yet been discovered, the mrs1 mouse is a valuable model for the studies of pathological mechanism and gene therapy for X-linked juvenile retinoschisis (XLRS). XLRS is a retinal disease caused by mutations in the gene encoding retinoschisin 1 (RS1), which leads to a significant proportion of visual impairment and blindness. |
