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 will work toward enhancing the present EMR by developing robust genotyping protocols, fixing the genetic backgrounds of mutants to allow for comparison across mutations, cryo-preserving mutants to ensure their future availability, and improving the accessibility of the information in our EMR database. We will also increase the number of ocular mutants available to the research community two-fold during the grant period and continue our very successful screening program for new mutants with ocular diseases. Finally, we will complete the initial phenotypic and/or molecular characterization of ocular mutants previously identified, focusing initially on eight models exhibiting sub-retinal neovascularization. The models themselves and the information gathered on each mutant will be available to the research community through literature, electronic publications, and the updated EMR web site. 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.

Public Health Relevance

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 EMR focuses on identifying, characterizing and distributing such models.

National Institute of Health (NIH)
National Eye Institute (NEI)
Research Project (R01)
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Study Section
Special Emphasis Panel (ZRG1-CB-G (90))
Program Officer
Shen, Grace L
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Jackson Laboratory
Bar Harbor
United States
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Nagai, Norihiro; Lundh von Leithner, Pete; Izumi-Nagai, Kanako et al. (2014) Spontaneous CNV in a novel mutant mouse is associated with early VEGF-A-driven angiogenesis and late-stage focal edema, neural cell loss, and dysfunction. Invest Ophthalmol Vis Sci 55:3709-19
Hasegawa, Eiichi; Sweigard, Harry; Husain, Deeba et al. (2014) Characterization of a spontaneous retinal neovascular mouse model. PLoS One 9:e106507
Roger, Jerome E; Hiriyanna, Avinash; Gotoh, Norimoto et al. (2014) OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. J Clin Invest 124:631-43
Johnson, Kenneth R; Gagnon, Leona H; Longo-Guess, Chantal M et al. (2014) Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene. J Assoc Res Otolaryngol 15:45-55
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Pang, Ji-jing; Dai, Xufeng; Boye, Shannon E et al. (2011) Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa. Mol Ther 19:234-42
Liang, Lina; Liegel, Ryan; Endres, Brad et al. (2011) Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice. Mol Vis 17:3062-71

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