Open AccessA Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3
Author(s) -
Mark Hassall,
Alun R. Barnard,
Harry O. Orlans,
Michelle E. McClements,
Peter Charbel Issa,
Sher A. Aslam,
Robert E. MacLaren
Publication year - 2018
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-24328
Subject(s) - achromatopsia , missense mutation , genetics , biology , mutation , gene , botany , retinal
A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss.
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