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Article

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Aug 2016

Wu Wen-Hsuan, Tsai Yi-Ting, Justus Sally, Lee Ting-Ting, Zhang Lijuan, Lin Chyuan-Sheng, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen H

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27203441
DOI: 10.1038/mt.2016.107
PMCID: PMC5023380

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