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Abstract #45894 Published in IGR 13-2

Mouse models of genetic eye diseases

Chang B
Medizinische Genetik 2011; 23: 67-68


The number of known serious or disabling eye diseases in humans is large and affects millions of people each year. Ye t research on these diseases frequently is limited by the obvious restrictions on studying pathophysiologic processes in the human eye. Likewise, many human eye diseases are genetic in origin, but appropriate or available families often are not easy for genetic studies. Mouse models of genetic eye disease provide powerful tools for quick genetic analysis and characterization. The mouse eye is remarkably similar in structure to the human eye, and many developmental or invasive experiments can be done in mice that are impossible in human beings. Comparative mapping and sequencing between human and mouse genomes shows that knowing the gene location in either man or mouse allows for the same gene to be found more quickly in the other. Finally, the use of inbred strains, where all mice in the strain are alike genetically except for the mutation being studied, is a powerful tool for linkage analysis, and assures phenotypic reproducibility of any model found in a strain. The virtual identity of mice in an inbred strain also allows for fewer numbers of mice to be studied clinically. The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to discover genetically determined eye variations and disorders. While screening mouse strains and stocks at The Jackson Laboratory (TJL) for genetic mouse models of human eye diseases, we have identified numerous spontaneous or naturally occurring mutants. We characterized these mutants using serial biomicroscope (slit lamp) and indirect ophthalmoscopy, fundus photography, electroretinography (ERG) and histology, and performed genetic analysis including linkage studies and gene identification. To date we have discovered over 100 new diseases affecting all aspects of the eye including the eye lid, cornea, iris, lens and retina, resulting in corneal diseases, glaucoma, cataracts and retinal degenerations. We have established a program for discovering genetic eye diseases in mice and characterizing their genetics and phenotypes sufficiently to make them valuable to investigators in the eye research field. The purpose of this lecture is to (a) describe how new mouse models of genetic eye diseases are identified and characterized and (b) to delineate some mouse models that we discovered at TJL.

B. Chang. Jackson Laboratory, Bar Harbor, United States.


Classification:

5.1 Rodent (Part of: 5 Experimental glaucoma; animal models)



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