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However, the translatability of murine models is limited by disparities in anatomy, body size, life span and inconsistent subtle behavior deficits that can be difficult to detect in CLN3 mutant mouse models, thereby limiting their use in preclinical studies. Here, we present a longitudinal characterization of a novel miniswine model of CLN3 disease that recapitulates the most common human pathogenic variant, an exon 7-8 deletion (CLN3\u0394ex7\/8). Progressive pathology and neuron loss is observed in various regions of the CLN3\u0394ex7\/8 miniswine brain and retina. Additionally, mutant miniswine present with retinal degeneration and motor abnormalities, similar to deficits seen in humans diagnosed with the disease. Taken together, the CLN3\u0394ex7\/8 miniswine model shows consistent and progressive Batten disease pathology, and behavioral impairment mirroring clinical presentation, demonstrating its value in studying the role of CLN3 and safety\/efficacy of novel disease-modifying therapeutics.<\/jats:p>","DOI":"10.1242\/dmm.050038","type":"journal-article","created":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T03:44:29Z","timestamp":1686541469000},"source":"Crossref","is-referenced-by-count":18,"title":["A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7509-9920","authenticated-orcid":false,"given":"Vicki J.","family":"Swier","sequence":"first","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1663-1961","authenticated-orcid":false,"given":"Katherine A.","family":"White","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6431-942X","authenticated-orcid":false,"given":"Tyler B.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojun","family":"Wang","sequence":"additional","affiliation":[{"name":"Precigen Exemplar 2 , Coralville, IA 52241 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6911-7870","authenticated-orcid":false,"given":"Jimin","family":"Han","sequence":"additional","affiliation":[{"name":", Center for Visual Science, University of Rochester Medical Center 3 Department of Ophthalmology , Rochester, NY 14642 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0707-063X","authenticated-orcid":false,"given":"David A.","family":"Pearce","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3821-1538","authenticated-orcid":false,"given":"Ruchira","family":"Singh","sequence":"additional","affiliation":[{"name":", Center for Visual Science, University of Rochester Medical Center 3 Department of Ophthalmology , Rochester, NY 14642 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlene V.","family":"Drack","sequence":"additional","affiliation":[{"name":"University of Iowa 4 Department of Ophthalmology and Visual Sciences , , Iowa City, IA 52242 , USA"},{"name":"University of Iowa Institute for Vision Research 5 , Iowa City, IA 52242 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanda","family":"Pfeifer","sequence":"additional","affiliation":[{"name":"University of Iowa 4 Department of Ophthalmology and Visual Sciences , , Iowa City, IA 52242 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher S.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Precigen Exemplar 2 , Coralville, IA 52241 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3324-6125","authenticated-orcid":false,"given":"Jon J.","family":"Brudvig","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"},{"name":"Sanford School of Medicine, University of South Dakota 6 Department of Pediatrics , , Sioux Falls, SD 57105 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2504-4942","authenticated-orcid":false,"given":"Jill M.","family":"Weimer","sequence":"additional","affiliation":[{"name":"Pediatrics and Rare Diseases Group, Sanford Research 1 , Sioux Falls, SD 57104, USA"},{"name":"Sanford School of Medicine, University of South Dakota 6 Department of Pediatrics , , Sioux Falls, SD 57105 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,8,7]]},"reference":[{"key":"2023080707431417200_DMM050038C1","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1017\/S0012162206000570","article-title":"Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis","volume":"48","author":"Adams","year":"2006","journal-title":"Dev. 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