Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.

ABSTRACT: Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1^+/- heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1^+/- knockout mice were impaired at fear extinction and novel- and spatial object recognition. In this study, Ehmt1^+/- and wild-type mice were tested on several cognitive tests in a touchscreen-equipped operant chamber to further investigate the nature of learning and memory changes.

SUBMITTER: Benevento M 

PROVIDER: S-EPMC5223204 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature