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Article

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

Neurobiology of disease - 1 Dec 2020

Aísa-Marín Izarbe, López-Iniesta M José, Milla Santiago, Lillo Jaume, Navarro Gemma, de la Villa Pedro, Marfany Gemma

Abstract excerpt

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 CRISPR/Cas9-D10A nickase. Allele Δ27 is an in-frame deletion of 27 bp that ablates the dimerization domain H10,...

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PMID: 33007388
DOI: 10.1016/j.nbd.2020.105122

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