CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts.

Sci Rep

Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University, Changchun, 130062, China.

Published: February 2016

AI Article Synopsis

  • Cataracts are the main cause of vision loss globally, but surgery can restore sight.
  • A new cataract model was developed in rabbits by knocking out the GJA8 gene, which is important for lens health.
  • This model, showing high gene editing efficiency and resulting in cataracts, will facilitate research for cataract drug screening and prevention.

Article Abstract

Cataracts are the leading cause of vision loss in the world, although surgical treatment can restore vision in cataract patients. Until now, there have been no adequate animal models for in vivo studies of artificial lens safety and drug interactions. Genetic studies have demonstrated that GJA8 is involved in maintaining lens opacity and proper lens development. In this study, a cataract model with GJA8 gene knockout was developed via co-injection of Cas9/sgRNA mRNA into rabbit zygotes. Our results showed that gene mutation efficiency in the GJA8 locus reached 98.7% in embryos and 100% in pups, demonstrating that the Cas9/sgRNA system is a highly efficient tool for gene editing in rabbits. In agreement with other studies, our genetic and histology results showed that impaired GJA8 function caused microphthalmia, small lens size and cataracts. In summary, our novel rabbit model of cataracts will be an important drug-screening tool for cataract prevention and treatment.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766569PMC
http://dx.doi.org/10.1038/srep22024DOI Listing

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