A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Muller Glia.

ABSTRACT:

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 simple sequence length polymorphic markers in an F2 intercross phenotyped by ERG. Genes within the candidate region of both mutants and controls were directly sequenced and compared. The effects of the mutation were examined in longitudinal studies by light microscopy, marker analysis, transmission electron microscopy, and ERG.

Results

The cpfl8 mutation was mapped t

SUBMITTER: Maddox DM 

PROVIDER: S-EPMC4468423 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature