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Updated: Jun 3, 2026
Strategies for Assessing Autistic-Like Behaviors in Mice
Published on: September 20, 2024
Autism candidate genes via mouse phenomics
Terrence F Meehan1, Christopher J Carr1, Jeremy J Jay1
1The Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609, USA.
Abstract:
Autism spectrum disorders (ASD) represent a group of developmental disabilities with a strong genetic basis. The laboratory mouse is increasingly used as a model organism for ASD, and MGI, the Mouse Genome Informatics resource, is the primary model organism database for the laboratory mouse. MGI uses the Mammalian Phenotype (MP) ontology to describe mouse models of human diseases. Using bioinformatics tools including Phenologs, MouseNET, and the Ontological Discovery Environment, we tested data associated with MP terms to characterize new gene-phenotype associations related to ASD. Our integrative analysis using these tools identified numerous mouse genotypes that are likely to have previously uncharacterized autistic-like phenotypes. The genes implicated in these mouse models had considerable overlap with a set of over 300 genes recently associated with ASD due to small, rare copy number variation (Pinto et al., 2010). Prediction and characterization of autistic mutant mouse alleles assists researchers in studying the complex nature of ASD and provides a generalizable approach to candidate gene prioritization.
Insights
Researchers identified new mouse models with autism-like phenotypes using bioinformatics tools. This study enhances understanding of autism spectrum disorder (ASD) genetics and aids in prioritizing candidate genes for future research.
Area of Science:
- Genetics and Bioinformatics
- Neurodevelopmental Disorders
- Animal Models
Background:
- Autism spectrum disorders (ASD) are complex developmental disabilities with a significant genetic component.
- The laboratory mouse serves as a crucial model organism for studying human diseases, including ASD.
- The Mouse Genome Informatics (MGI) database utilizes the Mammalian Phenotype (MP) ontology to classify mouse models.
Purpose of the Study:
- To identify novel gene-phenotype associations related to ASD using bioinformatics approaches.
- To characterize previously unannotated autistic-like phenotypes in mouse models.
- To leverage mouse models for a better understanding of ASD genetics.
Main Methods:
- Utilized bioinformatics tools such as Phenologs, MouseNET, and the Ontological Discovery Environment.
- Analyzed data associated with Mammalian Phenotype (MP) terms to discover gene-phenotype links.
- Integrated analysis to identify mouse genotypes with potential autistic-like phenotypes.
Main Results:
- Identified numerous mouse genotypes exhibiting potential autistic-like phenotypes.
- Found significant overlap between implicated genes in mouse models and genes previously associated with ASD.
- Highlighted the utility of bioinformatics for predicting and characterizing autism-related phenotypes in mice.
Conclusions:
- The study successfully identified novel mouse models relevant to autism spectrum disorder research.
- Bioinformatics tools provide a powerful and generalizable method for candidate gene prioritization in ASD.
- These findings contribute to a deeper understanding of the genetic underpinnings of ASD.
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