{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:39:55Z","timestamp":1777869595020,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T00:00:00Z","timestamp":1582156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["BX004285"],"award-info":[{"award-number":["BX004285"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["BX002190"],"award-info":[{"award-number":["BX002190"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Cystinuria Type A is a relatively common genetic kidney disease occurring in 1 in 7,000 people worldwide that results from mutation of the cystine transporter rBAT encoded by <jats:italic>Slc3a1<\/jats:italic>. We used CRISPR\/Cas9 technology to engineer cystinuria Type A mice via genome editing of the C57BL\/6NHsd background. These mice are an improvement on currently available models as they are on a coisogenic genetic background and have a single defined mutation. In order to use albinism to track Cas9 activity, we co\u2010injected gRNAs targeting <jats:italic>Slc3a1<\/jats:italic> and tyrosinase (<jats:italic>Tyr<\/jats:italic>) with Cas9 expressing plasmid DNA into mouse embryos. Two different <jats:italic>Slc3a1<\/jats:italic> mutational alleles were derived, with homozygous mice of both demonstrating elevated urinary cystine levels, cystine crystals, and bladder stones. We used whole genome sequencing to evaluate for potential off\u2010target editing. No off\u2010target indels were observed for the top 10 predicted off\u2010targets for <jats:italic>Slc3a1<\/jats:italic> or <jats:italic>Tyr<\/jats:italic>. Therefore, we used CRISPR\/Cas9 to generate coisogenic albino cystinuria Type A mice that could be used for in vivo imaging, further study, or developing new treatments of cystinuria.<\/jats:p>","DOI":"10.1002\/dvg.23357","type":"journal-article","created":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T13:30:56Z","timestamp":1582205456000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["CRISPR\/Cas9 engineering of albino cystinuria Type A mice"],"prefix":"10.1002","volume":"58","author":[{"given":"Thomas M.","family":"Beckermann","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard C.","family":"Welch","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felisha M.","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas P.","family":"Mortlock","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics Vanderbilt University  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talat A.","family":"Ikizler","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"},{"name":"Department of Molecular Physiology and Biophysics Vanderbilt University  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren E.","family":"Woodard","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"},{"name":"Department of Molecular Physiology and Biophysics Vanderbilt University  Nashville Tennessee"},{"name":"Department of Veterans Affairs Tennessee Valley Health Services  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3776-8350","authenticated-orcid":false,"given":"Matthew H.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Nephrology and Hypertension Vanderbilt University Medical Center  Nashville Tennessee"},{"name":"Department of Veterans Affairs Tennessee Valley Health Services  Nashville Tennessee"},{"name":"Department of Pharmacology Vanderbilt University  Nashville Tennessee"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.471"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.460"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)85133-6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku936"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-2092-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1231143"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2329-z"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-19"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11255-009-9597-y"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1663-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0102700"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx572"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11248-018-0081-2"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg189"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ucl.2007.04.006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00240-018-1101-7"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-019-1417-8"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4280"}],"container-title":["genesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fdvg.23357","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvg.23357","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/dvg.23357","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvg.23357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T20:51:36Z","timestamp":1694033496000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dvg.23357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,20]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/dvg.23357"],"URL":"https:\/\/doi.org\/10.1002\/dvg.23357","archive":["Portico"],"relation":{},"ISSN":["1526-954X","1526-968X"],"issn-type":[{"value":"1526-954X","type":"print"},{"value":"1526-968X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,20]]},"assertion":[{"value":"2020-01-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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