A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype [Retinal Cell Biology]

Conclusions. The Gnat2c.518A>G mouse contains a missense mutation that results in no cone function due to a misfolding of transducin. Cone photoreceptors also show signs of opsin mislocalization, retinal remodeling and degeneration. This naturally occurring model shows all the hallmark signs of achromatopsia.

http://www.iovs.org/cgi/content/full/54/5/3350?rss=1

Source: Investigative Ophthalmology - May 9, 2013 Category: Opthalmology Authors: Jobling, A. I., Vessey, K. A., Waugh, M., Mills, S. A., Fletcher, E. L. Tags: Retinal Cell Biology Source Type: research