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We generated germline\n Nphp5<\/jats:italic>\n \u2010knockout mice by placing a b\u2010Geo gene trap in intron 4, thereby truncating\n NPHP5<\/jats:italic>\n at Leu87 and removing all known functional domains. At eye opening,\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n endoplasmic reticulum was evident as early as postnatal day (P)6. EGFP\u2010CETN2, a centrosome and transition zone marker, identified basal bodies in\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n photoreceptors revealed aberrant transition zones of reduced diameter.\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n ;\n Nrl<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n (cone only) retina.\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n mouse embryonic fibroblast developed normal cilia, and\n Nphp5<\/jats:italic>\n \u2010\/\u2010<\/jats:sup>\n kidney histology at 1 yr of age showed no significant pathology. Results establish that nephrocystin\u20105 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation.\u2014Ronquillo, C. C., Hanke\u2010Gogokhia, C., Revelo, M. P., Frederick, J. M., Jiang, L., Baehr, W. Ciliopathy\u2010associated IQCB1\/NPHP5 protein is required for mouse photoreceptor outer segment formation. FASEB J. 30, 3400\u20133412 (2016).\n www.fasebj.org<\/jats:ext-link>\n <\/jats:p>","DOI":"10.1096\/fj.201600511r","type":"journal-article","created":{"date-parts":[[2016,6,22]],"date-time":"2016-06-22T17:25:00Z","timestamp":1466616300000},"page":"3400-3412","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Ciliopathy\u2010associated IQCB1\/NPHP5 protein is required for mouse photoreceptor outer segment formation"],"prefix":"10.1096","volume":"30","author":[{"given":"Cecinio C.","family":"Ronquillo","sequence":"first","affiliation":[{"name":"Department of Ophthalmology John A. Moran Eye Center University of Utah Health Science Center Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christin","family":"Hanke\u2010Gogokhia","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology John A. Moran Eye Center University of Utah Health Science Center Salt Lake City Utah USA"},{"name":"Department of Biochemistry and Biology University of Potsdam Potsdam\u2010Golm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica P.","family":"Revelo","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne M.","family":"Frederick","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology John A. Moran Eye Center University of Utah Health Science Center Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology John A. Moran Eye Center University of Utah Health Science Center Salt Lake City Utah USA"},{"name":"Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Baehr","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology John A. Moran Eye Center University of Utah Health Science Center Salt Lake City Utah USA"},{"name":"Department of Neurobiology and Anatomy University of Utah Health Science Center Salt Lake City Utah USA"},{"name":"Department of Biology University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2012.07.003"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2011.11.006"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.050377"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)69740-7"},{"key":"e_1_2_8_6_1","first-page":"391","article-title":"Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin","volume":"27","author":"Hollander A. 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