Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
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Human chromosome 16p11.2 microdeletion is the most common gene copy number variation in autism, but the synaptic pathophysiology caused by this mutation is largely unknown. Using a mouse with the same genetic deficiency, we found that metabotropic glutamate receptor 5 (mGluR5)-dependent synaptic plasticity and protein synthesis was altered in the hippocampus and that hippocampus-dependent memory was impaired. Notably, chronic treatment with a negative allosteric modulator of mGluR5 reversed the cognitive deficit.
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All three lines of 16p11.2+/− mice display social deficits in various testing paradigms and an array of cognitive deficits.
“All 3 lines of 16p11.2+/− mice display social deficits in various testing paradigms [59–64], and an array of cognitive deficits [4, 59, 62–68].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [65]
LTP/LTD appear intact in hippocampal CA1 of 16p11.2+/− mice (Mills), though protein-synthesis-dependent mGluR5 LTD is impaired.
“Long term potentiation and depression (LTP/LTD) appear to be intact in hippocampal CA1 of 16p11.2+/− mice (Mills), though protein-synthesis-dependent mGluR5 LTD is impaired [65].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [65]
CTEP also improves inhibitory avoidance deficits in 16p11.2 hemideletion mice.
“This approach was thus tested in 16p11.2+/− mice and proved effective in ameliorating IA deficits [65].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [65]
16p11.2 hemideletion mice display deficits in inhibitory avoidance.
“Inhibitory avoidance (IA) deficits are observed in 16p11.2+/− mice (Mills) [65].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [65]
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- Authors
- Tian, D., Stoppel, L. J., Heynen, A. J., Lindemann, L., Jaeschke, G., Mills, A. A., & Bear, M. F.
- Affiliations
- University of Southern California (US)
- Howard Hughes Medical Institute (US)
- F. Hoffmann-La Roche AG (CH)
- Cold Spring Harbor Laboratory (US)
- Corresponding author
- Bear, Mark F
- Venue
- Nature Neuroscience
- Published
- 2015-01-12
- Volume
- 18
- Issue
- 2
- Pages
- 182-184
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4323380
- OpenAlex
- W2063370018
- Cited by
- 109
- References
- 21
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 8 · 2023: 10 · 2022: 8 · 2021: 6 · 2020: 9 · 2019: 8 · 2018: 12 · 2017: 14 · 2016: 16 · 2015: 11
- FWCI
- 12.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (submittedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc)
- PMC
- Funders
- National Institutes of Health (5p30ca045508-35)
- National Institute of Mental Health (T32MH074249, R21MH090452)
- National Cancer Institute (P30-CA045508)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K08HD053824, R01HD046943)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- mGluR5, metabotropic glutamate receptor 5, autism spectrum disorder, gene copy number variation, synaptic plasticity, protein synthesis, hippocampus, hippocampal-dependent memory, cognitive impairment, negative allosteric modulators, mouse model
- MeSH terms
- Animals, Autistic Disorder, Behavior, Animal, Chromosome Deletion, Chromosomes, Human, Pair 16, Disease Models, Animal, Hippocampus, Imidazoles, Male, Memory Disorders, Intellectual Disability, Mice, Inbred C57BL, Mice, Transgenic, Neuronal Plasticity, Pyridines, Signal Transduction, Chromosome Disorders, Chromosomes, Mammalian, Mice, Receptor, Metabotropic Glutamate 5
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