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Heterozygous loss-of-function mutations in humans result in the childhood epilepsy disorder <jats:italic>PCDH19<\/jats:italic> Girls Clustering Epilepsy (<jats:italic>PCDH19<\/jats:italic> GCE) indicating that <jats:italic>PCDH19<\/jats:italic> is required for brain development. However, understanding <jats:italic>PCDH19<\/jats:italic> function <jats:italic>in vivo<\/jats:italic> has proven challenging and has not been studied in mammalian models. Here, we validate a murine <jats:italic>Pcdh19<\/jats:italic> null allele in which a <jats:italic>\u03b2-Geo<\/jats:italic> reporter cassette is expressed under the control of the endogenous promoter. Analysis of <jats:italic>\u03b2-Geo<\/jats:italic> reporter activity revealed widespread but restricted expression of <jats:italic>PCDH19<\/jats:italic> in embryonic, postnatal and adult brains. No gross morphological defects were identified in <jats:italic>Pcdh19<\/jats:italic><jats:sup>+\/<jats:italic>\u03b2-Geo<\/jats:italic><\/jats:sup> and <jats:italic>Pcdh19<\/jats:italic><jats:sup>Y\/<jats:italic>\u03b2-Geo<\/jats:italic><\/jats:sup> brains and the location of <jats:italic>Pcdh19<\/jats:italic> null cells was normal. However, <jats:italic>in vitro<\/jats:italic> migration assays revealed that the motility of <jats:italic>Pcdh19<\/jats:italic> null neurons was significantly elevated, potentially contributing to pathogenesis in patients with <jats:italic>PCDH19<\/jats:italic> mutations. Overall our initial characterization of <jats:italic>Pcdh19<\/jats:italic><jats:sup>+<jats:italic>\/\u03b2-Geo<\/jats:italic><\/jats:sup>, <jats:italic>Pcdh19<\/jats:italic><jats:sup><jats:italic>\u03b2-Geo\/\u03b2-Geo<\/jats:italic><\/jats:sup> and <jats:italic>Pcdh19<\/jats:italic><jats:sup><jats:italic>Y\/\u03b2-Geo<\/jats:italic><\/jats:sup>mice reveals that despite widespread expression of <jats:italic>Pcdh19<\/jats:italic> in the CNS and its role in human epilepsy, its function in mice is not essential for brain development.<\/jats:p>","DOI":"10.1038\/srep26765","type":"journal-article","created":{"date-parts":[[2016,5,31]],"date-time":"2016-05-31T09:06:21Z","timestamp":1464685581000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice"],"prefix":"10.1038","volume":"6","author":[{"given":"Daniel T.","family":"Pederick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire C.","family":"Homan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily J.","family":"Jaehne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra G.","family":"Piltz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan P.","family":"Haines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard T.","family":"Baune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lachlan A.","family":"Jolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James N.","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul Q.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,5,31]]},"reference":[{"key":"BFsrep26765_CR1","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/S0955-0674(02)00365-4","volume":"14","author":"M Frank","year":"2002","unstructured":"Frank, M. & Kemler, R. 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