Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models
Autism spectrum disorder (ASD) is a heterogeneous developmental disconnection syndrome. Identifying circuit deficits is crucial for understanding ASD etiology, yet the involvement of multiple brain regions and genetic variations complicates this analysis. Here, using an AI-powered mapping platform, BM-auto (Brain Mapping with Auto-ROI correction), to analyze a Thy1-YFP reporter, we show that different ASD-associated mutations cause distinct circuit abnormalities but share common deficits in the piriform cortex, a region regulating olfactory discrimination and social behavior patterns. We analyzed the whole-brain distribution of the Thy1-YFP reporter in three ASD mouse models (Tbr1<sup>+/-</sup>, Nf1<sup>+/-</sup>, and Vcp<sup>+/R95G</sup>). YFP signals revealed altered axonal projections and structural connectivity. We also found that Thy1-YFP<sup>+</sup> cell numbers varied across brain regions, revealing deficits in the differentiation or maintenance of projection neurons. While each mutation caused unique connectivity alterations, sensory regions-including the visual, somatosensory, and piriform cortices-were recurrently affected. However, effects on the visual and somatosensory cortices varied between models. The piriform cortex was the only region consistently impaired, showing reduced YFP signals and fewer Thy1-YFP<sup>+</sup> neurons across all three models. Furthermore, all three mutants exhibited common olfactory discrimination impairments. Manipulating piriform cortex activity altered social behavior patterns, highlighting its role in ASD-linked circuit dysfunction. These findings underscore the vulnerability of sensory regions-especially the piriform cortex-to ASD-related mutations, strengthening the notion that altered sensory experiences are common in ASD.
Authors
- Ming-Hui Lin (ORCID: https://orcid.org/0000-0003-0120-7110)
- Tsan‐Ting Hsu (ORCID: https://orcid.org/0009-0007-2361-5795)
- Chih‐Ping Chen (ORCID: https://orcid.org/0009-0004-0058-6053)
- Tzyy‐Nan Huang (ORCID: https://orcid.org/0000-0002-7509-6305)
- Tzu-En Hung (ORCID: https://orcid.org/0009-0009-0373-4871)
- Yi‐Ping Hsueh (ORCID: https://orcid.org/0000-0002-0866-6275)
- Chien-Yao Wang (ORCID: https://orcid.org/0000-0002-2946-8972)
Institutions
- Institute of Information Science, Academia Sinica (TW)
- Institute of Molecular Biology, Academia Sinica (TW)
Publication Details
- Journal
- Molecular Psychiatry
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1038/s41380-025-03340-2
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Academia Sinica
- National Science and Technology Council
- Institute of Information Science, Academia Sinica