Article

<i>Nr2e3</i> functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates Retinitis Pigmentosa and Enhanced S-cone Syndrome models

2020-06-13

Abstract excerpt

<h4>ABSTRACT</h4> 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 dimerizat...

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Literature Corpus work: 0a419355-00ca-5cf0-9552-5dba84c6cdfe
DOI: 10.1101/2020.06.13.147785

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