{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T23:18:45Z","timestamp":1788650325998,"version":"build-2803163510"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genet"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with mental retardation, a generally happy disposition, ataxia and characteristic behaviors such as inappropriate laughter, social-seeking behavior and hyperactivity. The majority of AS cases are due to loss of the maternal copy of the <jats:italic>UBE3A<\/jats:italic> gene. Maternal <jats:italic>Ube3a<\/jats:italic> deficiency (<jats:italic>Ube3a<\/jats:italic>\n              <jats:sup>m-\/p+<\/jats:sup>), as well as complete loss of <jats:italic>Ube3a<\/jats:italic> expression (<jats:italic>Ube3a<\/jats:italic>\n              <jats:sup>m-\/p-<\/jats:sup>), have been reproduced in the mouse model used here.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Here we asked if two characteristic AS phenotypes - social-seeking behavior and hyperactivity - are reproduced in the <jats:italic>Ube3a<\/jats:italic> deficient mouse model of AS. We quantified social-seeking behavior as time spent in close proximity to a stranger mouse and activity as total time spent moving during exploration, movement speed and total length of the exploratory path. Mice of all three genotypes (Ube3a<jats:sup>m+\/p+<\/jats:sup>, <jats:italic>Ube3a<\/jats:italic>\n              <jats:sup>m-\/p+<\/jats:sup>, <jats:italic>Ube3a<\/jats:italic>\n              <jats:sup>m-\/p-<\/jats:sup>) were tested and found to spend the same amount of time in close proximity to the stranger, indicating that <jats:italic>Ube3a<\/jats:italic> deficiency in mice does not result in increased social seeking behavior or social dis-inhibition. Also, <jats:italic>Ube3a<\/jats:italic> deficient mice were hypoactive compared to their wild-type littermates as shown by significantly lower levels of activity, slower movement velocities, shorter exploratory paths and a reduced exploratory range.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Although hyperactivity and social-seeking behavior are characteristic phenotypes of Angelman Syndrome in humans, the <jats:italic>Ube3a<\/jats:italic> deficient mouse model does not reproduce these phenotypes in comparison to their wild-type littermates. These phenotypic differences may be explained by differences in the size of the genetic defect as ~70% of AS patients have a deletion that includes several other genes surrounding the <jats:italic>UBE3A<\/jats:italic> locus.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2156-12-7","type":"journal-article","created":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T11:13:01Z","timestamp":1295435581000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome"],"prefix":"10.1186","volume":"12","author":[{"given":"Melody","family":"Allensworth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Saha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence T","family":"Reiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef H","family":"Heck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,1,14]]},"reference":[{"issue":"2","key":"866_CR1","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1002\/ajmg.1320560224","volume":"56","author":"CA Williams","year":"1995","unstructured":"Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT: Angelman syndrome: consensus for diagnostic criteria. 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