{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:51:54Z","timestamp":1747183914962,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An autosomal recessive mutation (<jats:italic>aht<\/jats:italic>) associated with abnormal hair texture and cardiomyopathy spontaneously arose in the Y\u2010chromosome consomic mouse strain DH\u2010Chr Y<jats:sup>SS<\/jats:sup>. The <jats:italic>aht<\/jats:italic>\/<jats:italic>aht<\/jats:italic> mouse phenotypes closely resembled those of <jats:italic>rul<\/jats:italic>\/<jats:italic>rul<\/jats:italic> mice, which were caused by a mutation in desmoplakin (<jats:italic>Dsp<\/jats:italic>) on chromosome 13. Quantitative trait locus (QTL) mapping using (DDD\/Sgn\u2009\u00d7\u2009DH\u2010Chr Y<jats:sup>SS<\/jats:sup>\u2010<jats:italic>aht<\/jats:italic> heterozygotes) F<jats:sub>2<\/jats:sub> mice demonstrated that <jats:italic>aht<\/jats:italic> is contiguous with <jats:italic>Dsp<\/jats:italic> on chromosome 13. However, no nucleotide changes were identified in the coding region of <jats:italic>Dsp<\/jats:italic> in <jats:italic>aht<\/jats:italic>\/<jats:italic>aht<\/jats:italic> mice by whole\u2010exome sequencing. Therefore, the molecular nature of the <jats:italic>aht<\/jats:italic> mutation remains unclear. Nevertheless, <jats:italic>aht<\/jats:italic>\/<jats:italic>aht<\/jats:italic> mice may serve as a new model for human diseases that are accompanied by abnormalities in the integumental and cardiovascular systems, including Carvajal\u2010Huerta syndrome.<\/jats:p>","DOI":"10.1111\/cga.12540","type":"journal-article","created":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T10:20:09Z","timestamp":1694600409000},"page":"200-205","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0659-2257","authenticated-orcid":false,"given":"Jun\u2010ichi","family":"Suto","sequence":"first","affiliation":[{"name":"Institute of Agrobiological Sciences National Agriculture and Food Research Organization (NARO)  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,13]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"HarrisBS Ward\u2010BaileyPF JohnsonKR BronsonRT DavissonMT.A new hair mutation named ruffled maps to chromosome 13.2005MGI direct submission."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexmp.2015.01.015"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(98)70317-2"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-92125-9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btg112"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2014.02.003"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.143.7.2009"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T02:10:37Z","timestamp":1700100637000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,13]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/cga.12540"],"URL":"https:\/\/doi.org\/10.1111\/cga.12540","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2023,9,13]]},"assertion":[{"value":"2023-02-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}