{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:14:19Z","timestamp":1790727259465,"version":"4.1.0"},"reference-count":52,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T00:00:00Z","timestamp":1601424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012280","name":"Rare Disease Foundation","doi-asserted-by":"publisher","award":["2774"],"award-info":[{"award-number":["2774"]}],"id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["Rare Disease Models and Mechanisms"],"award-info":[{"award-number":["Rare Disease Models and Mechanisms"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","award":["RGPIN-2018-05756"],"award-info":[{"award-number":["RGPIN-2018-05756"]}],"id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010090","name":"Women and Children's Health Research Institute","doi-asserted-by":"publisher","award":["WCHRIIG-2846"],"award-info":[{"award-number":["WCHRIIG-2846"]}],"id":[{"id":"10.13039\/100010090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in RP1L1 lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa. RP1L1 is a component of the photoreceptor axoneme, the backbone structure of the photoreceptor\u2019s light-sensing outer segment. We generated an rp1l1 zebrafish mutant using CRISPR\/Cas9 genome editing. Mutant animals had progressive photoreceptor functional defects as determined by electrophysiological assessment. Optical coherence tomography showed gaps in the photoreceptor layer, disrupted photoreceptor mosaics, and thinner retinas. Mutant retinas had disorganized photoreceptor outer segments and lipid-rich subretinal drusenoid deposits between the photoreceptors and retinal pigment epithelium. Our mutant is a novel model of RP1L1-associated photoreceptor disease and the first zebrafish model of photoreceptor degeneration with reported subretinal drusenoid deposits, a feature of age-related macular degeneration.<\/jats:p>","DOI":"10.3390\/cells9102214","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T09:41:01Z","timestamp":1601458861000},"page":"2214","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9094-6745","authenticated-orcid":false,"given":"Nicole C. L.","family":"Noel","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9521-1702","authenticated-orcid":false,"given":"Nathan J.","family":"Nadolski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C.","family":"Hocking","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Division of Anatomy, Department of Surgery, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Cell Biology, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Women and Children\u2019s Health Research Institute, University of Alberta, Edmonton, AB T6G 1C9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian M.","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, AB T6G 2R7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8461-4864","authenticated-orcid":false,"given":"W. Ted","family":"Allison","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"},{"name":"Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada"},{"name":"Centre for Prions and Protein Folding Diseases, University of Alberta, Edmonton, AB T6G 2M8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.gde.2019.05.004","article-title":"The photoreceptor cilium and its diseases","volume":"56","author":"Neuhauss","year":"2019","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"a028274","DOI":"10.1101\/cshperspect.a028274","article-title":"Photoreceptor cilia and retinal ciliopathies","volume":"9","author":"Bujakowska","year":"2017","journal-title":"Cold Spring Harb. 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