Mouse models of human ocular disease for translational research
Mouse models of human ocular disease for translational research
Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmental and/or degenerative disease. The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1tvrm119, Aipl1tvrm127, Rpgrip1tvrm111, RhoTvrm334) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1tvrm102, Clcn2nmf289, Fkrptvrm53). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. These murine models, on fixed genetic backgrounds, are available for distribution upon request and may be useful for understanding the function of the gene in the retina, the pathological mechanisms induced by its disruption, and for testing experimental approaches to treat the corresponding human ocular diseases.
- Veterans Health Administration United States
- Louis Stokes Cleveland VA Medical Center United States
- Jackson Laboratory United States
- Cleveland Clinic Lerner College of Medicine United States
- Case Western Reserve University United States
570, Eye Diseases, Science, 610, Cell Cycle Proteins, Retina, Translational Research, Biomedical, Mice, Chloride Channels, Transferases, Medicine and Health Sciences, Animals, Humans, Pentosyltransferases, Alleles, Vision, Ocular, Q, Retinal Degeneration, R, Life Sciences, Proteins, CLC-2 Chloride Channels, DNA-Binding Proteins, Cytoskeletal Proteins, Disease Models, Animal, Mutation, Medicine, Research Article
570, Eye Diseases, Science, 610, Cell Cycle Proteins, Retina, Translational Research, Biomedical, Mice, Chloride Channels, Transferases, Medicine and Health Sciences, Animals, Humans, Pentosyltransferases, Alleles, Vision, Ocular, Q, Retinal Degeneration, R, Life Sciences, Proteins, CLC-2 Chloride Channels, DNA-Binding Proteins, Cytoskeletal Proteins, Disease Models, Animal, Mutation, Medicine, Research Article
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