Ontology highlight
ABSTRACT:
SUBMITTER: Wu WH
PROVIDER: S-EPMC5023380 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Wu Wen-Hsuan WH Tsai Yi-Ting YT Justus Sally S Lee Ting-Ting TT Zhang Lijuan L Lin Chyuan-Sheng CS Bassuk Alexander G AG Mahajan Vinit B VB Tsang Stephen H SH
Molecular therapy : the journal of the American Society of Gene Therapy 20160520 8
Massive parallel sequencing enables identification of numerous genetic variants in mutant organisms, but determining pathogenicity of any one mutation can be daunting. The most commonly studied preclinical model of retinitis pigmentosa called the "rodless" (rd1) mouse is homozygous for two mutations: a nonsense point mutation (Y347X) and an intronic insertion of a leukemia virus (Xmv-28). Distinguishing which mutation causes retinal degeneration is still under debate nearly a century after the d ...[more]