The main objective of the Eye Mutant Resource (EMR) is to identify, characterize, and preserve mice with genetically caused ocular disorders. Our purpose is to distribute these well-characterized models quickly and efficiently to support and promote vision research with the ultimate goal of advancing the elucidation, treatment, and cure of heritable eye diseases. Award of this grant is critical to the continuation of this unique resource. In this application, we aim to identify new classes of retinal mutants that affect retina structure and retinal function as assessed by image-guided Optical Coherence Tomography (OCT) and brief-flash electro-retinography (ERG), respectively. The image-guided OCT and the brief-flash ERG protocols were adapted and validated during the past year, and included in our screening program. Using these new approaches, we discovered 5 retinal detachment strains, and over 10 strains with aberrant retinal function, which otherwise, would have been missed. We propose to continue our very successful and productive screening program using both the new methods as well as standard protocols. Together with the technological advances in genome research to map and identify new mutations, we will provide new models to the vision research community. We will also work toward enhancing the present EMR by developing robust genotyping protocols, fixing the genetic backgrounds of mutants to allow for comparison across mutations, cryopreserving mutants to ensure their future availability, and improving the accessibility of the information in our EMR database. It is expected that with the concerted effort and contribution from many groups using the EMR models, cumulatively, we will make a very significant impact on vision research.
Models to study eye diseases that occur in humans are important as reproducible experimental systems for elucidating pathways of normal development and function. Further, these models can be used to identify treatment targets and to test therapeutic strategies. The Eye Mutant Resource (EMR) focuses on identifying, characterizing and distributing such models.
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