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Trem2*R47H and reduced TREM2 expression both mimic human Alzheimer's disease signatures in mice

Abel, T. R.; Pandey, R. S.; Haber, A.; Garceau, D.; Sasner, M. J.; Kotredes, K. P.; Cary, G. A.; Oblak, A.; Howell, G. R.; Lamb, B. T.; Carter, G. W.

2025-12-19 neuroscience
10.64898/2025.12.17.694758 bioRxiv
Show abstract

INTRODUCTIONTREM2 loss of function variants are associated with late-onset Alzheimers disease (LOAD). We molecularly assessed mice with the missense variant, R47H (Trem2*R47HHSS), and mice with additional cryptic splicing and reduced Trem2 expression (Trem2*R47H) while comparing relevance to human LOAD. METHODSThe aberrant splice acceptor site in the Trem2*R47H mouse was humanized resulting in the Trem2*R47H humanized splice site (Trem2*R47HHSS) mouse. RNA sequencing was performed on mouse brain tissue and signatures were compared to human postmortem brain expression in LOAD cohorts. RESULTSTrem2*R47H mice had alternative splicing leading to reduced Trem2 expression; Trem2*R47HHSS mice expressed Trem2 at wild-type transcript and protein levels. Both models correlated with similar LOAD-associated signatures, and had similar effects on immune response, synapse, and vasculature biodomains. The Trem2*R47H model additionally affected extracellular matrix and myelination signatures. DISCUSSIONWe demonstrated that Trem2*R47H and Trem2*R47HHSS mice are complementary models for the study of molecular contributions to LOAD pathology.

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