Conditional loss of Kcnj13 in the retinal pigment epithelium causes photoreceptor degeneration

Experimental Eye Research
Dany RomanGraeme Mardon

Abstract

The retina is the light sensing tissue of the eye which contains multiple layers of cells required for the detection and transmission of a visual signal. Loss of the light-sensing photoreceptors leads to defects in visual function and blindness. Previously, we found that mosaic deletion of Kcnj13, and subsequent loss of the potassium channel Kir7.1, in mice leads to photoreceptor degeneration and recapitulates the human retinal disease phenotype (Zhong et al., 2015). Kcnj13 expression in the retinal pigment epithelium (RPE) is essential for normal retinal electrophysiology, function, and survival. Mice with homozygous loss of Kcnj13 die at postnatal day 1 (P1), requiring a tissue-specific approach to study retinal degeneration phenotypes in adult mice. We used the CRISPR-Cas9 system to generate a floxed, conditional loss-of-function (cKO) Kcnj13flox allele to study the pathogenesis of Kcnj13 deficiency in the retina. To investigate if the Kcnj13 is required in the RPE for photoreceptor function and survival, we used Best1-cre, which is specifically expressed in the RPE. We observed complete loss of Kcnj13 expression in Cre-positive RPE cells. Furthermore, our findings show that widespread loss of Kcnj13 in the RPE leads to seve...Continue Reading

Citations

Mar 9, 2019·Scientific Reports·Maria TomsMariya Moosajee
Jan 31, 2019·International Journal of Molecular Sciences·Thierry Léveillard, Laurence Klipfel
Sep 25, 2020·International Journal of Molecular Sciences·Meha Kabra, Bikash Ranjan Pattnaik
Aug 14, 2021·The Journal of General Physiology·Ida BjörkgrenPolina V Lishko

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