Eye Mutant Resource

We describe mouse models for ocular research available from The Jackson Laboratory and provide continuing results from a Jackson Laboratory screening program to identify genes and new mutations that affect vision.  We also provide a list of known mouse mutations that affect vision and present updated information on the cloning of vision-related genes. The primary focus is on the mouse as a model of human inherited vision disorders.

The number of known serious or disabling eye diseases in humans is large and affects millions of people each year.  Yet research on these diseases frequently is limited by the obvious restrictions on studying pathophysiologic processes in the human eye.  Likewise, many human ocular diseases are genetic in origin, but enlisting appropriate or available families for genetic studies often is not easy.  Mouse models of inherited ocular 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 ensures 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.