Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models

Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models

Mutations in NR2E3 cause retinitis pigmentosa (RP) and enhanced S-cone syndrome (ESCS) in humans. This gene produces a large isoform encoded in 8 exons and a previously unreported shorter isoform of 7 exons, whose function is unknown. We generated two mouse models by targeting exon 8 of Nr2e3 using...

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Bibliographic Details
Main Authors: Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla, Jaume Lillo, Gemma Navarro, Pedro de la Villa, Gemma Marfany
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Neurobiology of Disease
Subjects:
Nr2e3
CRISPR
Cas9D10A nickase
Retinitis pigmentosa
Enhanced S-cone syndrome
Inherited retinal dystrophies
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996120303971

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http://www.sciencedirect.com/science/article/pii/S0969996120303971

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