TY - JOUR T1 - Cellular and Behavioral Characterization of <em>Pcdh19</em> Mutant Mice: subtle Molecular Changes, Increased Exploratory Behavior and an Impact of Social Environment JF - eneuro JO - eNeuro DO - 10.1523/ENEURO.0510-20.2021 VL - 8 IS - 4 SP - ENEURO.0510-20.2021 AU - Natalia Galindo-Riera AU - Sylvia Adriana Newbold AU - Monika Sledziowska AU - Cristina Llinares-Benadero AU - Jessica Griffiths AU - Erik Mire AU - Isabel Martinez-Garay Y1 - 2021/07/01 UR - http://www.eneuro.org/content/8/4/ENEURO.0510-20.2021.abstract N2 - Mutations in the X-linked cell adhesion protein PCDH19 lead to seizures, cognitive impairment, and other behavioral comorbidities when present in a mosaic pattern. Neither the molecular mechanisms underpinning this disorder nor the function of PCDH19 itself are well understood. By combining RNA in situ hybridization with immunohistochemistry and analyzing single-cell RNA sequencing datasets, we reveal Pcdh19 expression in cortical interneurons and provide a first account of the subtypes of neurons expressing Pcdh19/PCDH19, both in the mouse and the human cortex. Our quantitative analysis of the Pcdh19 mutant mouse exposes subtle changes in cortical layer composition, with no major alterations of the main axonal tracts. In addition, Pcdh19 mutant animals, particularly females, display preweaning behavioral changes, including reduced anxiety and increased exploratory behavior. Importantly, our experiments also reveal an effect of the social environment on the behavior of wild-type littermates of Pcdh19 mutant mice, which show alterations when compared with wild-type animals not housed with mutants. ER -