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Open Access Research article

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

Melody Allensworth1, Anand Saha1, Lawrence T Reiter123 and Detlef H Heck1*

Author Affiliations

1 Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN 38139, USA

2 Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38139, USA

3 Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38139, USA

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BMC Genetics 2011, 12:7  doi:10.1186/1471-2156-12-7

Published: 14 January 2011

Abstract

Background

Angelman 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 (Ube3am-/p+), as well as complete loss of Ube3a expression (Ube3am-/p-), have been reproduced in the mouse model used here.

Results

Here we asked if two characteristic AS phenotypes - social-seeking behavior and hyperactivity - are reproduced in the Ube3a deficient mouse model of AS. We quantified social-seeking behavior as time spent in close proximity to a stranger mouse and activity as total time spent moving during exploration, movement speed and total length of the exploratory path. Mice of all three genotypes (Ube3am+/p+, Ube3am-/p+, Ube3am-/p-) were tested and found to spend the same amount of time in close proximity to the stranger, indicating that Ube3a deficiency in mice does not result in increased social seeking behavior or social dis-inhibition. Also, Ube3a deficient mice were hypoactive compared to their wild-type littermates as shown by significantly lower levels of activity, slower movement velocities, shorter exploratory paths and a reduced exploratory range.

Conclusions

Although hyperactivity and social-seeking behavior are characteristic phenotypes of Angelman Syndrome in humans, the Ube3a deficient mouse model does not reproduce these phenotypes in comparison to their wild-type littermates. These phenotypic differences may be explained by differences in the size of the genetic defect as ~70% of AS patients have a deletion that includes several other genes surrounding the UBE3A locus.