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Article

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

Investigative ophthalmology & visual science - 9 May 2013

Jobling Andrew I, Vessey Kirstan A, Waugh Michelle, Mills Samuel A, Fletcher Erica L

Abstract excerpt

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 Gnat2(c.518A>G) retinae and the product sequenced. Retinal function was assessed at 3, 6, 9, and 12 months using the electroretinogram....

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PMID: 23580486
DOI: 10.1167/iovs.13-11831

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