Article
A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia.
Investigative ophthalmology & visual science - 1 Jun 2015
Maddox Dennis M, Collin Gayle B, Ikeda Akihiro, Pratt C Herbert, Ikeda Sakae, Johnson Britt A, Hurd Ron E, Shopland Lindsay S, Naggert Jürgen K, Chang Bo, Krebs Mark P, Nishina Patsy M
Abstract excerpt
PURPOSE: The purpose of this study was to identify the molecular basis and characterize the pathological consequences of a spontaneous mutation named cone photoreceptor function loss 8 (cpfl8) in a mouse model with a significantly reduced cone electroretinography (ERG) response. METHODS: The chromosomal position for the recessive cpfl8 mutation was determined by DNA pooling and by subsequent genotyping with...
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