Rai1 haploinsufficiency is associated with social abnormalities in mice

Nalini R. Rao, Clemer Abad, Irene C. Perez, Anand K. Srivastava, Juan I. Young, Katherina Walz

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors. Methods: To investigate the relationship between Rai1 and social impairment, we evaluated the Rai1+/− mice with a battery of tests to address social behavior in mice. Results: We found that the mutant mice showed diminished interest in social odors, abnormal submissive tendencies, and increased repetitive behaviors when compared to wild type littermates. Conclusions: These findings suggest that Rai1 contributes to social behavior in mice, and prompt it as a candidate gene for the social behaviors observed in Smith-Magenis Syndrome patients.

Original languageEnglish (US)
Article number25
Issue number2
StatePublished - Jun 2017


  • Autism spectrum disorder
  • Rai1
  • Smith-Magenis syndrome
  • Social behavior

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Agricultural and Biological Sciences(all)


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