{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:40:05Z","timestamp":1789764005843,"version":"4.0.1"},"reference-count":41,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010446","name":"Institute for Basic Science","doi-asserted-by":"publisher","award":["IBS-R021-D1"],"award-info":[{"award-number":["IBS-R021-D1"]}],"id":[{"id":"10.13039\/501100010446","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nature Cell","award":["#550-20200076"],"award-info":[{"award-number":["#550-20200076"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dystrophinopathy is caused by mutations in the dystrophin gene, which lead to progressive muscle degeneration, necrosis, and finally, death. Recently, golden retrievers have been suggested as a useful animal model for studying human dystrophinopathy, but the model has limitations due to difficulty in maintaining the genetic background using conventional breeding. In this study, we successfully generated a dystrophin mutant dog using the CRISPR\/Cas9 system and somatic cell nuclear transfer. The dystrophin mutant dog displayed phenotypes such as elevated serum creatine kinase, dystrophin deficiency, skeletal muscle defects, an abnormal electrocardiogram, and avoidance of ambulation. These results indicate that donor cells with CRISPR\/Cas9 for a specific gene combined with the somatic cell nuclear transfer technique can efficiently produce a dystrophin mutant dog, which will help in the successful development of gene therapy drugs for dogs and humans.<\/jats:p>","DOI":"10.3390\/ijms23052898","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T10:21:16Z","timestamp":1646648476000},"page":"2898","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR\/Cas9-Mediated Somatic Cells: A Preliminary Study"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6861-8857","authenticated-orcid":false,"given":"Hyun Ju","family":"Oh","sequence":"first","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugene","family":"Chung","sequence":"additional","affiliation":[{"name":"Center for Genome Engineering, Institute for Basic Science, Seoul 08826, Korea"},{"name":"Department of Chemistry, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5728-4820","authenticated-orcid":false,"given":"Jaehwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Imaging, College of Veterinary Medicine, Konkuk University, Seoul 5029, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5868-1297","authenticated-orcid":false,"given":"Geon A.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"},{"name":"Department of Clinical Pathology, College of Health Science, Eulji University, Uijeongbu 11759, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seok Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kihae","family":"Ra","sequence":"additional","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kidong","family":"Eom","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Imaging, College of Veterinary Medicine, Konkuk University, Seoul 5029, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soojin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Soo","family":"Kim","sequence":"additional","affiliation":[{"name":"Center for Genome Engineering, Institute for Basic Science, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byeong Chun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Theriogenology and Biotechnology, College of Veterinary Medicine, Seoul National University, Seoul 08826, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.tig.2007.08.013","article-title":"Lessons learned from the dog genome","volume":"23","author":"Wayne","year":"2007","journal-title":"Trends Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.2460\/javma.2004.224.1290","article-title":"Herbicide exposure and the risk of transitional cell carcinoma of the urinary bladder in Scottish Terriers","volume":"224","author":"Glickman","year":"2004","journal-title":"J. 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