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Cerebellar structure and function abnormalities in 16p11.2 microduplication mice
Journal article   Open access   Peer reviewed

Cerebellar structure and function abnormalities in 16p11.2 microduplication mice

Cessily Hayes, Hunter Halverson, Krisha Keeran, Krislen Tison, Kamilla Jacobo, Asriya Karki, Isaias Herring, Sri Naga Swetha Tunuguntla, Martha Pace, Binh Doan, …
Brain communications, Vol.8(3), fcag156
05/08/2026
DOI: 10.1093/braincomms/fcag156
url
https://doi.org/10.1093/braincomms/fcag156View
Published (Version of record) Open Access

Abstract

16p11.2 microduplication (16p11.2dp/+) is associated with neuropsychiatric disorders including schizophrenia, autism, and intellectual disability. Cerebellar abnormalities have been implicated in these disorders. In 16p11.2dp/+ mice, the cerebellum displays significant transcriptional dysregulation, and humans with 16p11.2 microduplication have decreased cerebellar volume. Despite this, cerebellar anatomy and cerebellar-dependent behavior in 16p11.2dp/+ mice remain uncharacterized. To address this, we histologically examined the cerebellar cortex in 16p11.2dp/+ mice. There were no structural differences in cerebellar lobule IV/V or impairments in gait or motor coordination, commonly associated with lobule IV/V. In contrast, more Purkinje cells (PCs) were mislocalized to the granule layer and parvalbumin expression was decreased in molecular layer interneurons (MLIs) in cerebellar lobule VI of 16p11.2dp/+ mice, but not in lobule IV/V. Cerebellar lobule VI is associated with delay eyeblink conditioning, and 16p11.2dp/+ mice are impaired in cerebellum-dependent associative learning on this task. Specifically, 16p11.2dp/+ mice had conditioned response (CR) percentage and CR onset latency deficits, suggesting lobule-specific alterations to PC localization and MLI parvalbumin expression may impair learning and adaptive timing of cerebellar-driven CRs. Similarly, schizophrenia involves CR acquisition deficits in delay eyeblink conditioning. Further investigation of the cerebellum in 16p11.2dp/+ mice may provide insights into the pathogenesis of neuropsychiatric disorders linked to this copy number variant.
cerebellum Purkinje cells eyeblink conditioning stellate cells cerebellar learning

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