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Cited by 45Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency

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Tabbaa, Manal, Knoll, Allison, Levitt, Pat·2023·Neuron
DOI 10.1016/j.neuron.2023.01.009PMC PMC9960295

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Abstract

Preclinical models of neurodevelopmental disorders typically use single inbred mouse strains, which fail to capture the genetic diversity and symptom heterogeneity that is common clinically. We tested whether modeling genetic background diversity in mouse genetic reference panels would recapitulate population and individual differences in responses to a syndromic mutation in the high-confidence autism risk gene, CHD8. We measured clinically relevant phenotypes in >1,000 mice from 33 strains, including brain and body weights and cognition, activity, anxiety, and social behaviors, using 5 behavioral assays: cued fear conditioning, open field tests in dark and bright light, direct social interaction, and social dominance. Trait disruptions mimicked those seen clinically, with robust strain and sex differences. Some strains exhibited large effect-size trait disruptions, sometimes in opposite directions, and-remarkably-others expressed resilience. Therefore, systematically introducing genetic diversity into models of neurodevelopmental disorders provides a better framework for discovering individual differences in symptom etiologies.

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  • Patients carrying distinct mutations in broad-acting neurodevelopmental regulator genes consistently display core behavioral characteristics of ASD, though the underlying biological mechanisms remain incompletely understood.

    “Patients carrying distinct mutations in these genes consistently display core behavioral characteristics of ASD (Tabbaa et al., 2023), though the underlying biological mechanisms remain incompletely understood.”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Tabbaa et al., 2023

    The Introduction (page not provided) links CHD8 mutations in clinical populations to ASD, but says the associated traits have variable penetrance and severity. The Discussion (page not provided) says people with ASD may have core trait disruptions that manifest in opposite directions. These passages support an association with ASD-related behavior, not the claim that patients with distinct mutations in these genes consistently display the same core characteristics. (LLM, conf=0.84)

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Cited by

Sorted by citations

Authors
Tabbaa, M., Knoll, A., & Levitt, P.
Affiliations
University of Southern California (US)
Corresponding author
Levitt, Pat
ORCID
Venue
Neuron
Publisher
Elsevier BV
Published
2023-02
Volume
111
Issue
4
Pages
539-556.e5
ISSN
0896-6273 (ISSN-L)
DOI
10.1016/j.neuron.2023.01.009
PMC
PMC9960295
OpenAlex
W4319079975
Cited by
45
References
14
Citations by year
2026: 6 · 2025: 15 · 2024: 10 · 2023: 13 · 2022: 1
FWCI
7.30
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuron (publishedVersion, cc-by-nc-nd)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion, other-oa)
Funders
  • Saban Research Institute
  • NSF
  • University of Southern California
  • Children's Hospital Los Angeles
  • NIH
  • National Institute of Mental Health (R21MH118685)
  • National Science Foundation (DBI 2011039)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
CHD8, haploinsufficiency, autism risk genes, neurodevelopmental disorders, phenocopy, behavioral phenotypes, anxiety, social behavior, sex differences, resilience, inbred mouse strains
MeSH terms
Animals, Behavior, Animal, Brain, DNA-Binding Proteins, Female, Genetics, Population, Humans, Male, Mice, Inbred C57BL, Mice, Inbred Strains, Phenotype, Transcription Factors, Mice, Haploinsufficiency

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