期刊
PLOS ONE
卷 12, 期 8, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0183837
关键词
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资金
- National Institutes of Health [EY016501, EY011996, HD036878, CA034196]
- United States Department of Veterans Affairs
- Foundation Fighting Blindness Center
- National Institutes of Health-National Eye Institute [IP30EY025585]
- Research to Prevent Blindness
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 (Aipl1(tvrm119), Aipl1(tvrm127), Rpgrip1(tvrm111,) Rho(Tvrm334)) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1(tvrm102), Clcn2 (nmf289), Fkrp(tvrm53)). 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.
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