{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:15:31Z","timestamp":1788315331178,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["LI 2846\/5\u20101"],"award-info":[{"award-number":["LI 2846\/5\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["LI 2846\/6\u20101"],"award-info":[{"award-number":["LI 2846\/6\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n KCNV2\u2010associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light flashes and paradoxically large rod\u2010driven response to bright flashes of light. To model this condition, we have generated a Kcnv2 E151X mouse line and assessed its structural and functional retinal features.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We have employed CRISPR\/Cas 9 gene editing technology to generate a mouse line with an early stop mutation in position E151\u2014orthologous to the commonly encountered E143X mutation in humans\u2014and performed a combination of immunohistochemistry and Western blot to confirm the absence of the full\u2010length KCNV2\u2014encoded protein, Kv8.2. Next, to assess how closely it models the human disease, we have characterised the KCNV2 mutant mouse line at histological and functional levels, via immunohistochemistry and electroretinography experiments, respectively.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Kcnv2 mutant mice showed markedly reduced photopic responses and reproduced the supernormal rod phenotype described in affected individuals. In the morphological context, mutant retinas demonstrated strong glial fibrillary acidic protein upregulation together with reduced cone arrestin positive cell counts and photoreceptor layers, indicating photoreceptor loss.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The Kcnv2 mutant mouse line replicates key functional and structural hallmarks of KCNV2\u2010associated retinopathy. This model provides a relevant platform for mechanistic studies and preclinical evaluation of gene\u2010based or pharmacological therapies targeting cone and rod photoreceptor dysfunction.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ceo.70163","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T01:51:47Z","timestamp":1788313907000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Kcnv2\n E151X<\/scp>\n Mouse Captures Hallmarks of\n KCNV2<\/scp>\n \u2010Associated Retinal Dystrophy"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9676-9073","authenticated-orcid":false,"given":"Nermina","family":"Xhaferri","sequence":"first","affiliation":[{"name":"Institute of Physiology and Pathophysiology, Department of Neurophysiology Philipps\u2010University Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4837-3514","authenticated-orcid":false,"given":"Sumit","family":"Biswas","sequence":"additional","affiliation":[{"name":"Institute of Physiology and Pathophysiology, Department of Neurophysiology Philipps\u2010University Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3623-600X","authenticated-orcid":false,"given":"Benjamin","family":"Davies","sequence":"additional","affiliation":[{"name":"Francis Crick Institute London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4416-3421","authenticated-orcid":false,"given":"Moritz","family":"Lindner","sequence":"additional","affiliation":[{"name":"Institute of Physiology and Pathophysiology, Department of Neurophysiology Philipps\u2010University Marburg Marburg Germany"},{"name":"Department of Ophthalmology University Hospitals of Giessen and Marburg Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,1]]},"reference":[{"issue":"5","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1001\/archopht.1983.01040010718003","article-title":"Cone Dystrophy, Nyctalopia, and Supernormal Rod Responses. A New Retinal Degeneration","volume":"101","author":"Gouras P.","year":"1983","journal-title":"Archives of Ophthalmology"},{"issue":"3","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1086\/507568","article-title":"Mutations in the Gene KCNV2 Encoding a Voltage\u2010Gated Potassium Channel Subunit Cause \u2018Cone Dystrophy With Supernormal Rod Electroretinogram\u2019 in Humans","volume":"79","author":"Wu H.","year":"2006","journal-title":"American Journal of Human Genetics"},{"issue":"2","key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1167\/iovs.07-0471","article-title":"Cone Dystrophy With Supernormal Rod Response Is Strictly Associated With Mutations in KCNV2","volume":"49","author":"Wissinger B.","year":"2008","journal-title":"Investigative Ophthalmology & Visual Science"},{"issue":"5","key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1136\/bjophthalmol-2018-313278","article-title":"Progressive Cone and Cone\u2010Rod Dystrophies: Clinical Features, Molecular Genetics and Prospects for Therapy","volume":"103","author":"Gill J. 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