Monica Jablonski, PhD

For over 15 years, my laboratory has been identifying the genetic cause of aberrant ocular endophenotypes. From 2000-2005, my laboratory served as the Eye Domain of the Tennessee Mouse Genome Consortium (TMGC) in which various laboratories across the state of Tennessee used a forward genetics ENU-based mutagenesis screen to produce recessive mutations that affect the eye and brain. Using high throughput clinical and laboratory protocols, we identified seven mutant lines of mice with ocular abnormalities. In one of the lines of mice, we also identified a mutation in retinoschisin (Rs1h), making this the first murine model of X-linked retinoschisis in which the gene is expressed. Continuing with this line of investigation, we expanded our approach to include systems genetics methodologies and the BXD genetic reference panel of mice to identify modulators of glaucoma-related endophenotypes such as elevated intraocular pressure (IOP) and optic nerve (ON) damage. We are also mining the BXD family of mice to identify new spontaneous and polygenetic preclinical models of glaucoma. Although there are several meritorious glaucoma models that are currently available in species ranging from mouse to turkey to monkey, no model system completely mimics the array of human disease presentation. Therefore additional models of glaucoma are still an unmet need of the vision research community. It is my hope that the use of polygenetic spontaneous mouse models of glaucoma will lead to faster development of translational treatments for this highly prevalent blinding disorder.