Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

Genes Brain Behav. 2009 Jun;8(4):416-25. doi: 10.1111/j.1601-183X.2009.00487.x. Epub 2009 Feb 11.

Abstract

Autism spectrum disorder (ASD) is a frequent neurodevelopmental disorder characterized by variable clinical severity. Core symptoms are qualitatively impaired communication and social behavior, highly restricted interests and repetitive behaviors. Although recent work on genetic mutations in ASD has shed light on the pathophysiology of the disease, classifying it essentially as a synaptopathy, no treatments are available to date. To develop and test novel ASD treatment approaches, validated and informative animal models are required. Of particular interest, in this context are loss-of-function mutations in the postsynaptic cell adhesion protein neuroligin-4 and point mutations in its homologue neuroligin-3 (NL-3) that were found to cause certain forms of monogenic heritable ASD in humans. Here, we show that NL-3-deficient mice display a behavioral phenotype reminiscent of the lead symptoms of ASD: reduced ultrasound vocalization and a lack of social novelty preference. The latter may be related to an olfactory deficiency observed in the NL-3 mutants. Interestingly, such olfactory phenotype is also present in a subgroup of human ASD patients. Tests for learning and memory showed no gross abnormalities in NL-3 mutants. Also, no alterations were found in time spent in social interaction, prepulse inhibition, seizure propensity and sucrose preference. As often seen in adult ASD patients, total brain volume of NL-3 mutant mice was slightly reduced as assessed by magnetic resonance imaging (MRI). Our findings show that the NL-3 knockout mouse represents a useful animal model for understanding pathophysiological events in monogenic heritable ASD and for developing novel treatment strategies in this devastating human disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Anxiety / genetics
  • Anxiety / psychology
  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Autistic Disorder / psychology*
  • Brain / anatomy & histology
  • Brain / pathology
  • Cell Adhesion Molecules, Neuronal
  • Cues
  • Magnetic Resonance Imaging
  • Maze Learning / physiology
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Memory / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Motor Activity / drug effects
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics*
  • Olfaction Disorders / genetics*
  • Olfaction Disorders / psychology*
  • Point Mutation / physiology
  • Postural Balance / physiology
  • Reflex, Startle / genetics
  • Reflex, Startle / physiology
  • Seizures / chemically induced
  • Seizures / psychology
  • Social Behavior
  • Synaptic Transmission / physiology
  • Vocalization, Animal / physiology

Substances

  • Cell Adhesion Molecules, Neuronal
  • Membrane Proteins
  • Nerve Tissue Proteins
  • neuroligin 3