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The tafazzin gene is encoded on the X chromosome, and therefore BTHS primarily affects males. Female carriers are typically considered asymptomatic, but age-related changes have been reported in female carriers of other X-linked disorders. Therefore, we examined the phenotype of female mice heterozygous for deletion of the tafazzin gene (Taz-HET) at 3 and 12 months of age. Food intakes, body masses, lean tissue and adipose depot weights, daily activity levels, metabolic measures, and exercise capacity were assessed. Age-related changes in mice resulted in small but significant genotype-specific differences in Taz-HET mice compared with their female Wt littermates. By 12 months, Taz-HET mice weighed less than Wt controls and had smaller gonadal, retroperitoneal, and brown adipose depots and liver and brain masses, despite similar food consumption. Daily movement, respiratory exchange ratio, and total energy expenditure did not vary significantly between the age-matched genotypes. Taz-HET mice displayed improved glucose tolerance and insulin sensitivity at 12 months compared with their Wt littermates but had evidence of slightly reduced exercise capacity. Tafazzin mRNA levels were significantly reduced in the cardiac muscle of 12-month-old Taz-HET mice, which was associated with minor but significant alterations in the heart cardiolipin profile. This work is the first to report the characterization of a model of female carriers of heterozygous tafazzin deficiency and suggests that additional study, particularly with advancing age, is warranted.<\/jats:p>","DOI":"10.3390\/biology12091238","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:54:13Z","timestamp":1694746453000},"page":"1238","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0917-6817","authenticated-orcid":false,"given":"Michelle V.","family":"Tomczewski","sequence":"first","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5964-8053","authenticated-orcid":false,"given":"John Z.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duaa M.","family":"Al-Majmaie","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming Rong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex D.","family":"Cocco","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken D.","family":"Stark","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Strathdee","sequence":"additional","affiliation":[{"name":"Transgenic Technology Laboratory, Cancer Research UK Beatson Institute, Switchback Road, Glasgow G61 1BD, Scotland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3926-2740","authenticated-orcid":false,"given":"Robin E.","family":"Duncan","sequence":"additional","affiliation":[{"name":"Department of Kinesiology and Health Sciences, Faculty of Health, University of Waterloo, 200 University Ave W., BMH1044, Waterloo, ON N2L 3G1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1016\/j.bbalip.2019.03.012","article-title":"The role of cardiolipin concentration and acyl chain composition on mitochondrial inner membrane molecular organization and function","volume":"1864","author":"Pennington","year":"2019","journal-title":"Biochim. 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