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P. M. Nishina, W. Hicks, M. McCluskey, E. Gifford, K. Ishimura, A. Mourino, J. K. Naggert; Models for Translational Vision Research (MTVR). Invest. Ophthalmol. Vis. Sci. 2007;48(13):2991.
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To generate new mouse models and allelic series of genes that leads to human ocular diseases from the NMF and MTVR chemical mutagenesis programs. Mice with ocular developmental anomalies as well as degenerative diseases are being identified.
C57BL/6 mice are mutagenized with ethyl nitrosourea, mated to produce a G3 generation, the resulting G3 mice are aged to 24 weeks and screened by indirect ophthalmoscopy, by slit lamp biomicroscopy, and by ERG. Secondary screens include morphological analysis and where appropriate, ERG, fluorescein angiography and intraocular pressure measuremements
Heritability testing of 55 putants is currently underway and 22 mutant lines have been established. Of the 12 mutants in which we have identified a mutation underlying the ocular phenotype observed, 3 are remutations that are phenotypically similar to previous reported mutants, 5 are remutations that have unique phenotypes, 2 are mutations in which a human disease has been reported but a mouse model is unavailable, and 2 were novel genes.
Animal models are important to allow for identification of the molecular basis of disease, for elucidation of pathways in which particular genes function, and for providing a resource in which to test therapeutic interventions. They provide an unlimited source of tissue to examine pathological progression of disease and to study and, ultimately, understand normal eye biology. Allelic series provide a valuable tool to further elucidate the function of particular domains or splice variants of a gene. Mutagenesis programs have the potential for providing these much needed animal models.
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