Day-to-day spontaneous social behaviours is quantitatively and qualitatively affected in a 16p11.2 deletion mouse

Anna Rusu1, Claire Chevalier1, Fabrice de Chaumont2

  • 1Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire‑UMR 7104-UMR-S 1258, Illkirch, France.

Abstract

Insights

This study reveals that mice with a 16p11.2 deletion exhibit altered social behaviors and increased activity, with sex-specific differences observed over long-term monitoring. These findings highlight the importance of extended observation for understanding autism spectrum disorder models.

Area of Science:

  • Neuroscience
  • Genetics
  • Behavioral Science

Background:

  • Autism spectrum disorders (ASD) affect social communication and increase stereotyped behaviors.
  • A 16p11.2 micro-deletion is linked to intellectual disabilities and, in mouse models, learning and memory deficits, with variable social communication impairments.
  • Previous studies showed mixed results for social deficits in 16p11.2 deletion mouse models.

Purpose of the Study:

  • To investigate social deficits in a 16p11.2 deletion mouse model over extended observation periods.
  • To assess if behavioral deficits are evident during long-term monitoring, mimicking real-life patient assessment.
  • To analyze sex-specific behavioral differences in mice with the 16p11.2 deletion.

Main Methods:

  • Utilized a mouse model with a heterozygous deletion of the 16p11.2 region (Del/+).
  • Recorded individual and social behaviors over multiple consecutive nights in familiar mixed-genotype quartets and unfamiliar female pairs.
  • Compared Del/+ mice with their wild-type littermates, analyzing both sexes.

Main Results:

  • Del/+ mice of both sexes showed significantly increased locomotor activity compared to wild-type littermates.
  • Widespread social deficits were observed in Del/+ mice of both sexes, more pronounced in males within quartets.
  • Significant disruptions in social communication and behavior organization were noted in Del/+ females during pair interactions.

Conclusions:

  • Long-term recording reveals sex-specific alterations in locomotor activity and social behavior in the 16p11.2 deletion mouse model.
  • Extended observation periods are crucial for a comprehensive phenotype assessment in genetic models of neurodevelopmental disorders.
  • Findings support refining studies on cellular/molecular mechanisms and complement pre-clinical therapeutic trials for conditions like ASD.

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