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The latter are biphasic, including infantile dilated cardiomyopathy and distinct adult-onset cardiomyopathy, and poorly understood. We assessed cardiac function of Alms1 knockout (KO) mice by echocardiography. Cardiac function was unaltered in Alms1 global KO mice of both sexes at postnatal day 15 (P15) and 8\u2005weeks. At 23\u2005weeks, female \u2212 but not male \u2212 KO mice showed increased left atrial area and decreased isovolumic relaxation time, consistent with early restrictive cardiomyopathy, as well as reduced ejection fraction. No histological or transcriptional changes were seen in myocardium of 23-week-old female Alms1 global KO mice. Female mice with Pdgfra-Cre-driven Alms1 deletion in cardiac fibroblasts and in a small proportion of cardiomyocytes did not recapitulate the phenotype of global KO at 23\u2005weeks. In conclusion, only female Alms1-deficient adult mice show echocardiographic evidence of cardiac dysfunction, consistent with the cardiomyopathy of AS. The explanation for sexual dimorphism remains unclear but might involve metabolic or endocrine differences between sexes.<\/jats:p>","DOI":"10.1242\/dmm.050561","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T03:04:15Z","timestamp":1715915055000},"source":"Crossref","is-referenced-by-count":8,"title":["Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alstr\u00f6m syndrome cardiomyopathy"],"prefix":"10.1242","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5690-6042","authenticated-orcid":false,"given":"Eleanor J.","family":"McKay","sequence":"first","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"Luijten","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1657-5442","authenticated-orcid":false,"given":"Sophie","family":"Broadway-Stringer","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Sciences, University of Birmingham 2 , Birmingham B15 2TT , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Thomson","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong","family":"Weng","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4019-1844","authenticated-orcid":false,"given":"Katya","family":"Gehmlich","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Sciences, University of Birmingham 2 , Birmingham B15 2TT , UK"},{"name":"University of Oxford 3 Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford , , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3104-3305","authenticated-orcid":false,"given":"Gillian A.","family":"Gray","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6539-3069","authenticated-orcid":false,"given":"Robert K.","family":"Semple","sequence":"additional","affiliation":[{"name":"Centre for Cardiovascular Science, University of Edinburgh 1 , Edinburgh EH16 4TJ , UK"},{"name":"Institute of Genetics and Cancer, University of Edinburgh 4 MRC Human Genetics Unit , , Edinburgh EH4 2XU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"2024062810583227000_DMM050561C1","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1016\/j.bbrc.2006.02.032","article-title":"Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice","volume":"342","author":"Arsov","year":"2006","journal-title":"Biochem. 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