Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice

PLoS One. 2012;7(7):e40914. doi: 10.1371/journal.pone.0040914. Epub 2012 Jul 19.

Abstract

ENGRAILED 2 (En2), a homeobox transcription factor, functions as a patterning gene in the early development and connectivity of rodent hindbrain and cerebellum, and regulates neurogenesis and development of monoaminergic pathways. To further understand the neurobiological functions of En2, we conducted neuroanatomical expression profiling of En2 wildtype mice. RTQPCR assays demonstrated that En2 is expressed in adult brain structures including the somatosensory cortex, hippocampus, striatum, thalamus, hypothalamus and brainstem. Human genetic studies indicate that EN2 is associated with autism. To determine the consequences of En2 mutations on mouse behaviors, including outcomes potentially relevant to autism, we conducted comprehensive phenotyping of social, communication, repetitive, and cognitive behaviors. En2 null mutants exhibited robust deficits in reciprocal social interactions as juveniles and adults, and absence of sociability in adults, replicated in two independent cohorts. Fear conditioning and water maze learning were impaired in En2 null mutants. High immobility in the forced swim test, reduced prepulse inhibition, mild motor coordination impairments and reduced grip strength were detected in En2 null mutants. No genotype differences were found on measures of ultrasonic vocalizations in social contexts, and no stereotyped or repetitive behaviors were observed. Developmental milestones, general health, olfactory abilities, exploratory locomotor activity, anxiety-like behaviors and pain responses did not differ across genotypes, indicating that the behavioral abnormalities detected in En2 null mutants were not attributable to physical or procedural confounds. Our findings provide new insight into the role of En2 in complex behaviors and suggest that disturbances in En2 signaling may contribute to neuropsychiatric disorders marked by social and cognitive deficits, including autism spectrum disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autistic Disorder / genetics
  • Autistic Disorder / physiopathology*
  • Brain / physiology
  • Brain Stem / physiology
  • Cognition Disorders / genetics
  • Cognition Disorders / physiopathology*
  • Hippocampus / physiology
  • Homeodomain Proteins
  • Hypothalamus / physiology
  • Maze Learning / physiology
  • Mice
  • Mice, Knockout
  • Nerve Tissue Proteins
  • Signal Transduction
  • Social Behavior
  • Somatosensory Cortex / physiology

Substances

  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • engrailed 2 protein