Reciprocal effects on neurocognitive and metabolic phenotypes in mouse models of 16p11.2 deletion and duplication syndromes
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The 16p11.2 600 kb BP4-BP5 deletion and duplication syndromes have been associated with developmental delay; autism spectrum disorders; and reciprocal effects on the body mass index, head circumference and brain volumes. Here, we explored these relationships using novel engineered mouse models carrying a deletion (Del/+) or a duplication (Dup/+) of the Sult1a1-Spn region homologous to the human 16p11.2 BP4-BP5 locus. On a C57BL/6N inbred genetic background, Del/+ mice exhibited reduced weight and impaired adipogenesis, hyperactivity, repetitive behaviors, and recognition memory deficits. In contrast, Dup/+ mice showed largely opposite phenotypes. On a F1 C57BL/6N × C3B hybrid genetic background, we also observed alterations in social interaction in the Del/+ and the Dup/+ animals, with other robust phenotypes affecting recognition memory and weight. To explore the dosage effect of the 16p11.2 genes on metabolism, Del/+ and Dup/+ models were challenged with high fat and high sugar diet, which revealed opposite energy imbalance. Transcriptomic analysis revealed that the majority of the genes located in the Sult1a1-Spn region were sensitive to dosage with a major effect on several pathways associated with neurocognitive and metabolic phenotypes. Whereas the behavioral consequence of the 16p11 region genetic dosage was similar in mice and humans with activity and memory alterations, the metabolic defects were opposite: adult Del/+ mice are lean in comparison to the human obese phenotype and the Dup/+ mice are overweight in comparison to the human underweight phenotype. Together, these data indicate that the dosage imbalance at the 16p11.2 locus perturbs the expression of modifiers outside the CNV that can modulate the penetrance, expressivity and direction of effects in both humans and mice.
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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 [59]
Hyperlocomotion is broadly reported in 16p11.2+/− mice, another behavioral feature that does not coincide directly with human symptomology.
“Hyperlocomotion is also broadly reported in 16p11.2+/− mice [4, 5, 59, 61, 63, 64, 70], another behavioral feature that does not coincide directly with human symptomology.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [59]
Hypolocomotion and enhanced object recognition memory are reported in 16p11.2dp/+ mice (Herault) on a C57BL/6N inbred background, whereas on a F1 C57BL/6N-C3B hybrid background, mice additionally exhibit social approach deficits.
“Hypolocomotion and enhanced object recognition memory are reported in 16p11.2dp/+ mice (Herault) on a C57BL/6N inbred genetic background, whereas on a F1 C57BL/6N-C3B hybrid background, mice additionally exhibit social approach deficits [59].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [59]
Recordings from CA1 of 16p11.2+/− mice (Herault) reveal intact synaptic transmission, along with modest but not statistically significant reductions in LTP.
“Recordings from CA1 of 16p11.2+/− mice (Herault) reveal intact synaptic transmission, along with modest but not statistically significant reductions in LTP [59].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [59]
16p11.2dp/+ mice (Herault) show impaired LTP in CA1.
“The 16p11.2dp/+ mice (Herault) show impaired LTP in CA1 [59].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [59]
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Gundersen, B. B., O’Brien, W. T., Schaffler, M. D., Schultz, M. N., Tsukahara, T., Lorenzo, S. M., Nalesso, V., Clayton, A. L., Abel, T. G., Crawley, J. N., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.05.01.538987 · Cited by 6 · see citing works
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Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal modelPreprint
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IMPC impact on preclinical mouse models
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- Authors
- Arbogast, T., Ouagazzal, A.-M., Chevalier, C., Kopanitsa, M., Afinowi, N., Migliavacca, E., Cowling, B. S., Birling, M.-C., Champy, M.-F., Reymond, A., & Herault, Y.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Synome (United Kingdom) (GB)
- SIB Swiss Institute of Bioinformatics (CH)
- University of Lausanne (CH)
- ORCID
- Venue
- PLOS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2016-02-12
- Volume
- 12
- Issue
- 2
- Pages
- e1005709
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC4752317
- OpenAlex
- W2264590724
- Cited by
- 151
- References
- 76
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 17 · 2023: 24 · 2022: 10 · 2021: 19 · 2020: 13 · 2019: 18 · 2018: 13 · 2017: 14 · 2016: 6 · 2015: 1
- FWCI
- 13.72
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- IRIS (submittedVersion)
- HAL (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- SERVAL (Université de Lausanne) (submittedVersion, other-oa)
- Spiral (Imperial College London) (submittedVersion, other-oa)
- Funders
- National Science Foundation
- Simons Foundation (SFARI274424)
- Simons Foundation Autism Research Initiative (SFARI274424)
- European Commission (EU-FP7, 037627, LSHG-CT-2006-037627, 241995)
- Agence Nationale de la Recherche (ANR-10-INBS-07 PHENOMIN., ANR-10-INBS-07, ANR-10-IDEX-0002, ANR-10-IDEX, ANR-10-LABX-0030, ANR-10-IDEX0002-02, ANR-10, ANR-10-INBS-0007, 31003A_160203)
- Institut National de la Santé et de la Recherche Médicale (ANR 10 IDEX 0002, ANR-10-INBS-07 PHENOMIN, ANR-10-IDEX-0002-02, ANR-10-INBS-07, ANR‐10‐LABX‐0030‐INRT)
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (160203, 133044)
- Fondation pour la Recherche Médicale (ANR-10-LABX-0030-INRT, FDT20130928080)
- Université de Strasbourg (ANR-10-LABX-0030, ANR-10-LABX-0030-INRT, ANR-10-IDEX- 0002, ANR-10-IDEX-0002-02)
- Centre National de la Recherche Scientifique (ANR-10-IDEX-0002-02, ANR-10-IDEX-0002, ANR-10-LABX-0030-INRT)
- PHENOMIN (ANR-10-INBS-07)
- Interreg
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- 16p11.2 deletion syndrome, copy number variation, genetically engineered mouse models, adipogenesis, obesity, body weight, hyperactivity, repetitive behavior, recognition memory, social interaction, autism spectrum disorder, developmental delay, high-fat high-sugar diet, energy imbalance, gene expression profiling, dosage effect, brain volume, head circumference
- MeSH terms
- Alleles, Animals, Behavior, Animal, Body Weight, Brain, Chromosome Deletion, Cognition, Disease Models, Animal, Gene Expression Regulation, Hippocampus, Memory, Mice, Inbred C57BL, Motor Activity, Synaptic Transmission, Phenotype, Syndrome, Weaning, Arylsulfotransferase, Gene Rearrangement, Craniofacial Abnormalities, Gene Expression Profiling, Chromosomes, Mammalian, Adiposity, Chromosome Duplication, Diet, High-Fat
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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