Normal social seeking behavior hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome

摘要

BackgroundAngelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with mental retardation, a generally happy disposition, ataxia and characteristic behaviors such as inappropriate laughter, social-seeking behavior and hyperactivity. The majority of AS cases are due to loss of the maternal copy of the UBE3A gene. Maternal Ube3a deficiency (Ube3a^m-/p+), as well as complete loss of Ube3a expression (Ube3a^m-/p-), have been reproduced in the mouse model used here.