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Mouse models of human ocular disease for translational research

Authors: Mark P. Krebs; Gayle B. Collin; Wanda L. Hicks; Minzhong Yu; Jeremy R. Charette; Lan Ying Shi; Jieping Wang; +3 Authors

Mouse models of human ocular disease for translational research

Abstract

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.

Keywords

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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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
42
Top 10%
Top 10%
Top 10%
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gold