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Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the histological features of human NPH in murine models. In this study, we deleted exon 2\u201320 of Nphp1 by CRISPR\/Cas9 gene editing to create a near-total knockout (KO) mouse model (Nphp1del2\u201320\/del2\u201320). Nphp1del2\u201320\/del2\u201320 mice faithfully reproduced the renal and extrarenal phenotypes associated with human NPH, including renal cyst development, tubular basement membrane thickening, retinal degeneration and abnormal spermatogenesis. Importantly, Nphp1 re-expression using an adenoviral-associated-virus-9 vector could partially rescue both renal and retinal phenotypes in Nphp1del2\u201320\/del2\u201320 mice. Our results reported the first relevant Nphp1 mouse model with renal phenotypes for human disease. It will be a valuable model for future studies of Nphp1 function and to develop novel treatments for this common childhood disease.<\/jats:p>","DOI":"10.1093\/hmg\/ddab239","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T19:10:38Z","timestamp":1628881838000},"page":"232-243","source":"Crossref","is-referenced-by-count":27,"title":["An <i>Nphp1<\/i> knockout mouse model targeting exon 2\u201320 demonstrates characteristic phenotypes of human nephronophthisis"],"prefix":"10.1093","volume":"31","author":[{"given":"Dantong","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miaoyue","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huamu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoya","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongrong","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefei","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Physiology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C M","family":"Ong","sequence":"additional","affiliation":[{"name":"Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihui","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1962-8626","authenticated-orcid":false,"given":"Liangzhong","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,8,20]]},"reference":[{"key":"2022010913473882200_ref1","first-page":"1256","article-title":"Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. 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