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In this study, we characterized the\n                    <jats:italic>raifteir\u00ed (raf)<\/jats:italic>\n                    zebrafish, a novel model of inherited blindness, identified through an unbiased ENU mutagenesis screen. A mutation in the largest subunit of the endoplasmic reticulum membrane protein complex,\n                    <jats:italic>emc1<\/jats:italic>\n                    was subsequently identified as the causative\n                    <jats:italic>raf<\/jats:italic>\n                    mutation. We sought to elucidate the cellular and molecular phenotypes in the\n                    <jats:italic>emc1<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    knockout model and explore the association of\n                    <jats:italic>emc1<\/jats:italic>\n                    with retinal degeneration. Visual behavior and retinal electrophysiology assays demonstrated that\n                    <jats:italic>emc1<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mutants had severe visual impairments. Retinal histology and morphometric analysis revealed extensive abnormalities, including thinning of the photoreceptor layer, in addition to large gaps surrounding the lens. Notably, photoreceptor outer segments were drastically smaller, outer segment protein expression was altered and hyaloid vasculature development was disrupted. Transcriptomic profiling identified cone and rod\u2010specific phototransduction genes significantly downregulated by loss of\n                    <jats:italic>emc1<\/jats:italic>\n                    . These data shed light on why\n                    <jats:italic>emc1<\/jats:italic>\n                    is a causative gene in inherited retinal disease and how outer segment morphogenesis is regulated.\n                  <\/jats:p>","DOI":"10.1096\/fj.202401977r","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T07:10:41Z","timestamp":1727939441000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis"],"prefix":"10.1096","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2206-6221","authenticated-orcid":false,"given":"Tess","family":"McCann","sequence":"first","affiliation":[{"name":"UCD School of Biomolecular and Biomedical Science University College Dublin  Dublin Ireland"},{"name":"UCD Conway Institute of Biomolecular and Biomedical Sciences University College Dublin  Dublin 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