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Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.

Autism research : official journal of the International Society for Autism Research (2016-08-06)
Thomas C Jaramillo, Haley E Speed, Zhong Xuan, Jeremy M Reimers, Christine Ochoa Escamilla, Travis P Weaver, Shunan Liu, Irina Filonova, Craig M Powell
ABSTRAKT

Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability. Here, we present electrophysiological and behavioral consequences in novel heterozygous and homozygous mice with a transcriptional stop cassette inserted upstream of the PDZ domain-coding exons in Shank3 (Shank3