{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T12:02:22Z","timestamp":1790424142890,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T00:00:00Z","timestamp":1377475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:p><jats:bold>Rett syndrome (<jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content>) is a regressive developmental disorder characterized by motor and breathing abnormalities, anxiety, cognitive dysfunction and seizures. Approximately 95% of <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> cases are caused by more than 200 different mutations in the X\u2010linked gene encoding methyl\u2010<jats:styled-content style=\"fixed-case\">CpG<\/jats:styled-content>\u2010binding protein 2 (<jats:styled-content style=\"fixed-case\">MeCP2<\/jats:styled-content>). While numerous transgenic mice have been created modeling common mutations in <jats:styled-content style=\"fixed-case\">MeCP2<\/jats:styled-content>, the behavioral phenotype of many of these male and, especially, female mutant mice has not been well characterized. Thorough phenotyping of additional <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> mouse models will provide valuable insight into the effects of <jats:italic>Mecp2<\/jats:italic> mutations on behavior and aid in the selection of appropriate models, ages, sexes and outcome measures for preclinical trials. In this study, we characterize the phenotype of male and female mice containing the early truncating <jats:italic><jats:styled-content style=\"fixed-case\">MeCP2 R168X<\/jats:styled-content><\/jats:italic> nonsense point mutation, one of the most common in <jats:styled-content style=\"fixed-case\">RTT<\/jats:styled-content> individuals, and compare the phenotypes to <jats:italic>Mecp2<\/jats:italic> null mutants. <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X<\/jats:sup> mutants mirror many clinical features of RTT. <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X\/y<\/jats:sup> males exhibit impaired motor and cognitive function and reduced anxiety. The behavioral phenotype is less severe and with later onset in <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X\/+<\/jats:sup> females. Seizures were noted in 3.7% of <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X<\/jats:sup> mutant females. The phenotype in <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X\/y<\/jats:sup> mutant males is remarkably similar to our previous characterizations of <jats:italic>Mecp2<\/jats:italic> null males, whereas <jats:italic>Mecp2<\/jats:italic><jats:sup>R168X\/+<\/jats:sup> females exhibit a number of phenotypic differences from females heterozygous for a null <jats:italic>Mecp2<\/jats:italic> mutation. This study describes a number of highly robust behavioral paradigms that can be used in preclinical drug trials and underscores the importance of including <jats:italic>Mecp2<\/jats:italic> mutant females in preclinical studies<\/jats:bold>.<\/jats:p>","DOI":"10.1111\/gbb.12070","type":"journal-article","created":{"date-parts":[[2013,8,12]],"date-time":"2013-08-12T11:26:45Z","timestamp":1376306805000},"page":"732-740","source":"Crossref","is-referenced-by-count":46,"title":["<scp>MeCP2 R168X<\/scp> male and female mutant mice exhibit Rett\u2010like behavioral deficits"],"prefix":"10.1111","volume":"12","author":[{"given":"L. R.","family":"Schaevitz","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Tufts University Medford MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. B.","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Tufts University Medford MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. P.","family":"Zhen","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Tufts University Medford MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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