The mouse Engrailed genes: a window into autism

Behav Brain Res. 2007 Jan 10;176(1):121-32. doi: 10.1016/j.bbr.2006.09.009. Epub 2006 Oct 20.

Abstract

The complex behavioral symptoms and neuroanatomical abnormalities observed in autistic individuals strongly suggest a multi-factorial basis for this perplexing disease. Although not the perfect model, we believe the Engrailed genes provide an invaluable "window" into the elusive etiology of autism spectrum disorder. The Engrailed-2 gene has been associated with autism in genetic linkage studies. The En2 knock-out mouse harbors cerebellar abnormalities that are similar to those found in autistic individuals and, as we report here, has a distinct anterior shift in the position of the amygdala in the cerebral cortex. Our initial analysis of background effects in the En1 mouse knock-out provides insight as to possible molecular mechanisms and gender differences associated with autism. These findings further the connection between Engrailed and autism and provide new avenues to explore in the ongoing study of the biological basis of this multifaceted disease.

Publication types

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

MeSH terms

  • Amygdala / abnormalities
  • Amygdala / metabolism*
  • Animals
  • Autistic Disorder / genetics
  • Autistic Disorder / metabolism*
  • Cerebellum / abnormalities
  • Cerebellum / metabolism*
  • Disease Models, Animal
  • Genetic Linkage
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Organ Size
  • Social Behavior

Substances

  • En1 protein, mouse
  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • engrailed 2 protein