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...
Main Authors: | Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla, Jaume Lillo, Gemma Navarro, Pedro de la Villa, Gemma Marfany |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-12-01
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Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996120303971 |
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