The authors utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought to cause Leber congenital amaurosis (LCA). They found that complete loss of Kcnj13 is likely postnatal lethal. Among surviving F0-generation mice examined, 80% show mosaic KCNJ13 expression in the retinal pigment epithelium (RPE). These results suggest that KCNJ13 expression is required for RPE cells to maintain photoreceptor survival. Moreover, they show that CRISPR-Cas9 engineered mosaicism can be used to rapidly test candidate gene function in vivo.
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The authors utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought to cause Leber congenital amaurosis (LCA). They found that complete loss of Kcnj13 is likely postnatal lethal. Among surviving F0-generation mice examined, 80% show mosaic KCNJ13 expression in the retinal pigment epithelium (RPE). These results suggest that KCNJ13 expression is required for RPE cells to maintain photoreceptor survival. Moreover, they show that CRISPR-Cas9 engineered mosaicism can be used to rapidly test candidate gene function in vivo.
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