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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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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Ji, Xiaojie; Chang, Bo; Naggert, Jürgen K et al. (2016) Lysosomal Trafficking Regulator (LYST). Adv Exp Med Biol 854:745-50
Chang, Bo (2016) Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. Methods Mol Biol 1438:417-30
Ji, Xiaojie; Liu, Ye; Hurd, Ron et al. (2016) Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ. Invest Ophthalmol Vis Sci 57:877-88
Johnson, Kenneth R; Gagnon, Leona H; Chang, Bo (2016) A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice. Mamm Genome 27:200-12
Rice, Dennis S; Calandria, Jorgelina M; Gordon, William C et al. (2015) Adiponectin receptor 1 conserves docosahexaenoic acid and promotes photoreceptor cell survival. Nat Commun 6:6228
Fairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad et al. (2015) Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25:948-57
Dai, Xufeng; Zhang, Hua; He, Ying et al. (2015) The frequency-response electroretinogram distinguishes cone and abnormal rod function in rd12 mice. PLoS One 10:e0117570
Ackert-Bicknell, Cheryl L; Anderson, Laura C; Sheehan, Susan et al. (2015) Aging Research Using Mouse Models. Curr Protoc Mouse Biol 5:95-133
Maddox, Dennis M; Collin, Gayle B; Ikeda, Akihiro et al. (2015) A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia. Invest Ophthalmol Vis Sci 56:3776-87
Veleri, Shobi; Lazar, Csilla H; Chang, Bo et al. (2015) Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Dis Model Mech 8:109-29

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