ArticleScientific reports2015
CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed, 83 citations in OpenAlex.
- Bioactive lipid-mediated structural and functional regulation of the essential human potassium channel Kir7.1.Nature communications · 2026Article
- CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.Current gene therapy · 2025Review
- Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.Journal of translational medicine · 2024Review
- CRISPR technology in human diseases.MedComm · 2024Review
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- Correspondence of Yolk Sac and Embryonic Genotypes in F0 Mouse CRISPants.Medical research archives · 2023Article
- The application and progression of CRISPR/Cas9 technology in ophthalmological diseases.Eye (London, England) · 2023Review
- Review
- Current landscape of gene-editing technology in biomedicine: Applications, advantages, challenges, and perspectives.MedComm · 2022Review
- Evolution of inwardly rectifying potassium channels and their gene expression in zebrafish embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Gene editing and its applications in biomedicine.Science China. Life sciences · 2022Review
- Review
- Application of CRISPR/Cas9 System in Establishing Large Animal Models.Frontiers in cell and developmental biology · 2022Review
- CRISPR-Based Genome Editing as a New Therapeutic Tool in Retinal Diseases.Molecular biotechnology · 2021Review
- Toward precise CRISPR DNA fragment editing and predictable 3D genome engineering.Journal of molecular cell biology · 2021Review
- Retinal Development and Pathophysiology in Kcnj13 Knockout Mice.Frontiers in cell and developmental biology · 2021Article
- Gene Therapy Intervention in Neovascular Eye Disease: A Recent Update.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Review
- Generation of myostatin edited horse embryos using CRISPR/Cas9 technology and somatic cell nuclear transfer.Scientific reports · 2020Article
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells.Investigative ophthalmology & visual science · 2020Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The era of genomics has demanded the development of more efficient and timesaving approaches to validate gene function in disease. Here, we 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), an early-onset form of blindness. We 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). Mosaic expression correlates with decreased response to light and photoreceptor degeneration, indicating that Kcnj13 mutant mice mimic human KCNJ13-related LCA disease. Importantly, mosaic animals enable us to directly compare Kcnj13 mutant and wild-type RPE cells in the same eye. We found that RPE cells lacking KCNJ13 protein still survive but overlying photoreceptors exhibit cell degeneration. At the same time, wild-type RPE cells can rescue neighboring photoreceptor cells that overlie mutant RPE cells. These results suggest that KCNJ13 expression is required for RPE cells to maintain photoreceptor survival. Moreover, we show that CRISPR-Cas9 engineered mosaicism can be used to rapidly test candidate gene function in vivo.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.