Actin Cytoskeletal Organization in CDH23 Mutant Mice

Baxter, Grant

Actin Cytoskeletal Organization in CDH23 Mutant Mice

Persistent URL

http://hdl.handle.net/10456/36088

Author(s)

Baxter, Grant

Date Issued

March 31, 2014

Abstract

Usher syndrome is a genetic disorder resulting in deaf-blindness if the genes are defective or missing. CDH23 is one example of a gene responsible for Usher syndrome, thought to play a role in development of the ear's stereocilia and the eye's retina. This study examined a possible pathologic mechanism for Usher symptoms in mice with mutated CDH23: abnormalities in the actin cytoskeleton. The hypothesis was that defects would be noticeable in regions between cells using images with a fluorescent actin stain. Compared to age-matched wild-type mice, CDH23 mutants possessed thinner posterior eye tissue and cells in the retina were free-floating and did not connect to one another as cells in the wild-type retina did. Optic nerve cells were joined together in long filaments in wild-type eyes, while cells formed amorphous globules in mutant CDH23 eyes. This provides some evidence that actin cytoskeleton disorganization may be a possible mechanism for Usher symptoms.

First Reader(s)

Donmoyer, Christine M.