Throughout the literature there are a myriad of examples of mouse models playing a central role in furthering our understanding of human diseases. Therefore, the need for mouse models, with their well- developed genetics and similarity to human physiology and anatomy, is clear. Mice carrying mutations that alter developmental pathways or cellular function provide model systems for analyzing defects in comparable human disorders and for serving as a resource to test therapeutic strategies. Mutant mice also provide reproducible, experimental systems for elucidating pathways of normal development and function, and of pathological responses. The primary objective of the Eye Mutant Resource (EMR) at The Jackson Laboratory is to discover, characterize and preserve mice with ocular disorders and to make them available to the vision research community. The EMR has distributed 35 mouse models of ocular disease to the vision research community and has also contributed to the development of many new therapies. For example, by using Gnat1rd17Gnat2cpfl3 double mutant mice from the EMR, researchers restored some vision in mice with a congenital blindness by changing Mller glia, which are supportive cells in the retina, into light-sensing cells. The findings may help advance the development of regenerative therapies for blinding eye diseases. In this application, we aim to screen for additional ocular mutants and characterize, at the clinical and molecular level, subretinal neovascularization and glaucoma models previously identified in our screening program. Aberrant neovascular growth is a serious complication in many eye diseases, such as retinopathy of prematurity, diabetic retinopathy, wet age-related macular degeneration (AMD), neovascular-associated geographic atrophy, and certain inherited retinopathies, causing significant vision impairment and blindness. Glaucoma is expected to reach a global prevalence of 111.8 million by 2040. These models may identify novel molecules/pathways involved in the respective diseases and provide a resource for further in-depth research and a platform to test therapeutic strategies. We will also continue our distribution of ocular mouse models and work toward enhancing the EMR and making it more self-sufficient. The Jackson Laboratory (JAX), with the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal environment to discover genetically determined ocular variations and disorders. It is also an ideal place to site the repository from which ocular models can be distributed to investigators to support and promote vision research world-wide. The technical expertise, economies of scale, and networks for resource distribution at JAX enhance the quality and the likelihood of continued success of the Eye Mutant Resource (EMR).
/PUBLIC HEALTH RELEVANCE Mice carrying mutations that alter developmental pathways or cellular function provide model systems for analyzing defects in comparable human disorders and for serving as a resource to test therapeutic strategies. Mutant mice also provide reproducible, experimental systems for elucidating pathways of normal development and function, and of pathological responses. The Eye Mutant Resource (EMR) focuses on identifying, characterizing and distributing such models for human eye diseases.
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