%0 Journal Article %A Laleh Sinai %A Evgueni A. Ivakine %A Emily Lam %A Marielle Deurloo %A Joana Dida %A Ralph A. Zirngibl %A Cynthia Jung %A Jane E. Aubin %A Zhong-Ping Feng %A John Yeomans %A McInnes Roderick R. %A Lucy R. Osborne %A John C. Roder %T Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I %D 2015 %R 10.1523/ENEURO.0016-14.2015 %J eneuro %P ENEURO.0016-14.2015 %V 2 %N 2 %X Src is a nonreceptor protein tyrosine kinase that is expressed widely throughout the central nervous system and is involved in diverse biological functions. Mice homozygous for a spontaneous mutation in Src (Src thl/thl) exhibited hypersociability and hyperactivity along with impairments in visuospatial, amygdala-dependent, and motor learning as well as an increased startle response to loud tones. The phenotype of Src thl/thl mice showed significant overlap with Williams-Beuren syndrome (WBS), a disorder caused by the deletion of several genes, including General Transcription Factor 2-I (GTF2I). Src phosphorylation regulates the movement of GTF2I protein (TFII-I) between the nucleus, where it is a transcriptional activator, and the cytoplasm, where it regulates trafficking of transient receptor potential cation channel, subfamily C, member 3 (TRPC3) subunits to the plasma membrane. Here, we demonstrate altered cellular localization of both TFII-I and TRPC3 in the Src mutants, suggesting that disruption of Src can phenocopy behavioral phenotypes observed in WBS through its regulation of TFII-I. %U https://www.eneuro.org/content/eneuro/2/2/ENEURO.0016-14.2015.full.pdf