{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:24:32Z","timestamp":1778664272554,"version":"3.51.4"},"reference-count":53,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>\n              Contrary to the common belief, the most commonly used laboratory C57BL\/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and for several traits, the genotype-phenotype link remains still unknown. Recently, we characterized the most important stroke survival factor such as brain collateral plasticity in 2 brain ischemia C57BL\/6J mouse models (bilateral common carotid artery stenosis and middle cerebral artery occlusion) and observed a Mendelian-like fashion of inheritance of the posterior communicating artery (PcomA) patency. Interestingly, a copy number variant (CNV) spanning\n              <jats:italic toggle=\"yes\">Ide<\/jats:italic>\n              locus was reported to segregate in an analogous Mendelian-like pattern in the C57BL\/6J colonies of the Jackson Laboratory. Given\n              <jats:italic toggle=\"yes\">IDE<\/jats:italic>\n              critical role in vascular plasticity, we hypothesized\n              <jats:italic toggle=\"yes\">Ide<\/jats:italic>\n              CNV may have explained PcomA variability in C57BL\/6J inbred mice.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>METHODS:<\/jats:title>\n            <jats:p>\n              We applied a combination of techniques (T2-weighted magnetic resonance imaging, time-of-flight angiography, cerebral blood flow imaging, and histology) to characterize the collaterome in 77 C57BL\/6J bilateral common carotid artery stenosis, middle cerebral artery occlusion, naive, and sham mice and performed on these Taqman genotyping, exome sequencing, and RNA sequencing. We then investigated the hypothesis that\n              <jats:italic toggle=\"yes\">IDE<\/jats:italic>\n              structural variants (CNVs, gain\/loss of function mutations) may have influenced the cerebrovascular phenotype in a large cohort of 454\u2005040 cases and controls (UK Biobank, Genomics England).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>\n              We detected an\n              <jats:italic toggle=\"yes\">Ide<\/jats:italic>\n              CNV in a bilateral common carotid artery stenosis mouse with 2 patent PcomAs (minor allele frequency, 1.3%), not segregating with the PcomA patency phenotype. In addition, 2 heterozygous\n              <jats:italic toggle=\"yes\">IDE<\/jats:italic>\n              CNVs, resulting in loss of function were found in 1 patient with hereditary ataxia, a patient with hereditary congenital heart disease, and 2 healthy individuals (minor allele frequency 9\u00d710\n              <jats:sup>-6<\/jats:sup>\n              ). Moreover, we report 4\n              <jats:italic toggle=\"yes\">IDE<\/jats:italic>\n              loss of function point mutations (p.Leu5X, p.Met394ValfsX29, p.Pro14SerfsX26, p.Leu889X, minor allele frequency 0.02%) present also in controls or inherited from healthy parents.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSIONS:<\/jats:title>\n            <jats:p>\n              <jats:italic toggle=\"yes\">Ide<\/jats:italic>\n              CNV and loss of function variants are rare, do not crucially influence PcomA variability in C57BL\/6J inbred mice, and do not cause a vascular phenotype in humans.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/strokeaha.124.049575","type":"journal-article","created":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T05:00:34Z","timestamp":1737954034000},"page":"725-736","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["<i>Ide<\/i>\n            Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL\/6J Mouse Models nor in Humans: An Exploratory Study"],"prefix":"10.1161","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3354-6790","authenticated-orcid":true,"given":"Marco","family":"Foddis","sequence":"first","affiliation":[{"name":"Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., 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