A naturally occurring mouse model of achromatopsia: Characterization of the mutation in cone transducin and subsequent retinal phenotype

Abstract

PURPOSE. This work investigates a novel, naturally occurring mouse model of achromatopsia. The specific missense mutation within the Gnat2 gene was identified and the subsequent retinal phenotype characterized. METHODS. The Gnat2 sequence was amplified using PCR from BALB/c and Gnat2c.518A>G retinae and the product sequenced. Retinal function was assessed at 3, 6, 9, and 12 months using the electroretinogram. Transducin and opsin expression were assessed at 3 and 12 months using immunohistochemistry and quantitative PCR. Retinal remodeling and Müller cell gliosis were investigated using immunocytochemistry. RESULTS. An A to G missense mutation at position 518 of the Gnat2 gene was identified..