Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice.

ABSTRACT: Angelman syndrome (AS) is a genetic neurodevelopmental disorder, most commonly caused by deletion or mutation of the maternal allele of the UBE3A gene, with behavioral phenotypes and seizures as key features. Currently no treatment is available, and therapeutics are often ineffective in controlling AS-associated seizures. Previous publications using the Ube3a maternal deletion model have shown behavioral and seizure susceptibility phenotypes, however findings have been variable and merit characterization of electroencephalographic (EEG) activity. In this study, we extend previous studies comparing the effect of genetic background on the AS phenotype by investigating the behavioral profile, EEG activity, and seizure threshold. AS C57BL/6J mice displayed robust behavioral impairments, sponta

SUBMITTER: Born HA 

PROVIDER: S-EPMC5559514 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature