Our aim is to characterize, breed and distribute to qualified investigators a series of mutant mice or tissus from such mice, as a stimulus to the experimental study of disease models relevant to the goal of increasing the understanding and therapeutic control of human ophthalmological disorders. The majority of the relevant mutations and inbred lines are already in hand, ready to be expanded for use by others. These include four major models of diseases in the retinitis pigmentosa class, named Retinal degeneration, Nervous, Purkinje cell degeneration, and Retinal degeneration slow. The middle two of these, like several of the human diseases, involve degeneration of photoreceptor cells and selected classes of neurons elsewhere in the nervous system. Control of genetic background and use of multiple alleles will extend the analytical opportunities considerably. Additional models of congenital stationary night blindness, aberrant optic axon growth (as in human albinos), and defects of eye movement coordination reflexeswill be propagated, and new relevant mutations will be added as they are developed. An administrative mechanism will be established to foster optimal standards of animal care and genetic quality control, computerized pedigree recording, and (in close cooperation with National Eye Institute administration) evaluation and prioritization of outside requests for breeding stock, affected animals and genetically-appropriate controls, frozen or fixed tissues, and nucleic acid and protein extracts.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project--Cooperative Agreements (U01)
Project #
3U01EY006859-06S1
Application #
3551974
Study Section
Vision Research and Training Committee (VSN)
Project Start
1990-06-01
Project End
1992-03-31
Budget Start
1990-09-30
Budget End
1992-03-31
Support Year
6
Fiscal Year
1991
Total Cost
Indirect Cost
Name
Harvard University
Department
Type
Schools of Medicine
DUNS #
082359691
City
Boston
State
MA
Country
United States
Zip Code
02115
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Lin-Jones, Jennifer; Parker, Ed; Wu, Mike et al. (2003) Disruption of kinesin II function using a dominant negative-acting transgene in Xenopus laevis rods results in photoreceptor degeneration. Invest Ophthalmol Vis Sci 44:3614-21
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Evans, B L; Smith, S B (1997) Analysis of esterification of retinoids in the retinal pigmented epithelium of the Mitf-vit (vitiligo) mutant mouse. Mol Vis 3:11
Tang, M; Ruiz, M; Kosaras, B et al. (1996) Increased cell genesis in retinal pigment epithelium of perinatal vitiligo mutant mice. Invest Ophthalmol Vis Sci 37:1116-24
Sidman, R L; Kosaras, B; Tang, M (1996) Pigment epithelial and retinal phenotypes in the vitiligo mivit, mutant mouse. Invest Ophthalmol Vis Sci 37:1097-115
Smith, S B; Titelman, R; Hamasaki, D I (1996) Effects of basic fibroblast growth factor on the retinal degeneration of the mi(vit)/mi(vit) (vitiligo) mouse: a morphologic and electrophysiologic study. Exp Eye Res 63:565-77

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