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Multiple autism-like behaviors in a novel transgenic mouse model.

Autism spectrum disorder (ASD) diagnoses are behaviorally based with no defined universal biomarkers, occur at a 1:110 ratio in the population, and predominantly affect males compared to females at approximately a 4:1 ratio. One approach to investigate and identify causes of ASD is to use organisms that display abnormal behavioral responses that model ASD-related impairments. This study describes a novel transgenic mouse, MALTT, which was generated using a forward genetics approach. It was determined that the transgene integrated within a non-coding region on the X chromosome. The MALTT line exhibited a complete repertoire of ASD-like behavioral deficits in all three domains required for an ASD diagnosis: reciprocal social interaction, communication, and repetitive or inflexible behaviors. Specifically, MALTT male mice showed deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and exhibited a repetitive stereotypy. Abnormalities were also observed in the domain of sensory function, a secondary phenotype prevalently associated with ASD. Mapping and expression studies suggested that the Fam46 gene family may be linked to the observed ASD-related behaviors. The MALTT line provides a unique genetic model for examining the underlying biological mechanisms involved in ASD-related behaviors.

Pubmed ID: 21093492 RIS Download

Mesh terms: Aggression | Analysis of Variance | Animals | Autistic Disorder | Disease Models, Animal | Female | Male | Mice | Mice, Transgenic | Sensory Gating | Social Behavior | Stereotyped Behavior | Vocalization, Animal

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Associated grants

  • Agency: NICHD NIH HHS, Id: P30 HD024064
  • Agency: NICHD NIH HHS, Id: P30 HD024064-23

Mouse Genome Informatics (Data, Gene Annotation)

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