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Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome
Open accessAbstract
Down syndrome (DS) results from triplication of human chromosome 21. Neuropathological hallmarks of DS include atypical central nervous system development that manifests prenatally and extends throughout life. As a result, individuals with DS exhibit cognitive and motor deficits and have delays in achieving developmental milestones. To determine whether different mouse models of DS recapitulate the human prenatal and postnatal phenotypes, here we directly compared brain histogenesis, gene expression, and behavior over the lifespan of three cytogenetically distinct mouse models of DS: Ts1Cje, Ts65Dn and Dp(16)1/Yey. Histological data indicated that Ts65Dn mice were the most consistently affected with respect to somatic growth, neurogenesis, and brain morphogenesis. Embryonic and adult gene expression results showed that Ts1Cje and Ts65Dn brains had considerably more differentially expressed (DEX) genes compared to Dp(16)1/Yey mice, despite the larger number of triplicated genes in the latter model. In addition, DEX genes showed little overlap in identity and chromosomal distribution in the three models, leading to dissimilarities in affected functional pathways. Perinatal and adult behavioral testing also highlighted differences among the models in their abilities to achieve various developmental milestones and perform hippocampal- and motor-based tasks. Interestingly, Dp(16)1/Yey mice showed no abnormalities in prenatal brain phenotypes, yet they manifested behavioral deficits starting at postnatal day 15 that continued through adulthood. In contrast, Ts1Cje mice showed mildly abnormal embryonic brain phenotypes, but only select behavioral deficits as neonates and adults. Altogether, our data showed widespread and unexpected fundamental differences in behavioral, gene expression, and brain development phenotypes between these three mouse models. Our findings illustrate unique limitations of each model when studying aspects of brain development and function in DS. This work helps to inform model selection in future studies investigating how observed neurodevelopmental abnormalities arise, how they contribute to cognitive impairment, and when testing therapeutic molecules to ameliorate the intellectual disability associated with DS.
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“As previously reported,38,40 Dp16 mice showed less freezing behavior compared to WT mice after the second shock on day 1 (Figure 2B).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [40]
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“recent studies that indicate an increased ratio of inhibitory to excitatory neurons in the cortex and hippocampus in Dp16 mice that is associated with deficits in learning, memory, and motor function.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [40]
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“Notably, Dp16 mice exhibit hyperactive IFN signaling and recapitulate many phenotypes of DS including developmental delays, cranial malformations, and cognitive deficits.38,40,42,43,44,45”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [40]
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“The Ts65Dn DS mouse model demonstrates embryonic and early postnatal gene expression, neuroanatomical, and developmental behavioral deficits like those observed in DS, whereas other DS models, including Dp1Yey and TcMAC21, do not have or have not yet been tested for these phenotypes (Aziz et al., 2018; Goodliffe et al., 2016).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Aziz et al., 2018
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“We next tested motor coordination using the accelerating rotarod test DS-AD mice (Data S4), and consistent with previous reports,38,40 we found that Dp16 mice exhibit impaired motor coordination at 3 and 5 months of age relative to WT littermates, with a trend toward poorer performance at 7 and 9 months of age (Figure 2A).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [40]
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“this could be explained in part by the fact that Dp16 mice present an impairment in motor coordination, and associative learning and memory ameliorating the cognitive profile observed in AD mice.”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [40]
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“In concert, the number of actively proliferating cells in the germinal zone of the dorsal telencephalon is decreased (Aziz et al., 2018; Shaw et al., 2020) and this deficit persists postnatally, with fewer proliferating cells being found in the hippocampus (Contestabile et al., 2007).”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Aziz et al., 2018
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“Contrary to the existing human data, these proliferation changes appear to be region specific as an increase in number of actively proliferating cells was observed in the embryonic medial ganglionic eminence, the site of interneuron production (Chakrabarti et al., 2010; Aziz et al., 2018).”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Aziz et al., 2018
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Metadata
- Authors
- Aziz, N. M., Guedj, F., Pennings, J. L. A., Olmos-Serrano, J. L., Siegel, A., Haydar, T. F., & Bianchi, D. W.
- Affiliations
- Boston University (US)
- National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
- National Institute for Public Health and the Environment (NL)
- National Institutes of Health (US)
- Corresponding author
- Aziz, Nadine M.
- ORCID
- Venue
- Disease Models & Mechanisms
- Publisher
- The Company of Biologists
- Published
- 2018-01-01
- Volume
- 11
- Issue
- 6
- ISSN
- 1754-8403 (ISSN-L)
- 1754-8411
- PMC
- PMC6031353
- OpenAlex
- W2801858511
- Cited by
- 118
- References
- 135
- Citations by year
- 2026: 4 · 2025: 12 · 2024: 19 · 2023: 21 · 2022: 16 · 2021: 13 · 2020: 18 · 2019: 13 · 2018: 2
- FWCI
- 10.97
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Disease Models & Mechanisms (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Rivm Repository (Netherlands National Institute for Public Health and the Environment) (submittedVersion)
- Rivm (National Institute for Public Health and the Environment) (submittedVersion)
- Funders
- National Institutes of Health (R01NS076503, R01HD058880)
- Illumina (250-10396-12547000001)
- Anna and John J. Sie Foundation (250-10488-40026002016)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Down syndrome, Ts65Dn mouse model, mouse models of Down syndrome, brain development, neurogenesis, brain morphogenesis, physical growth, differentially expressed genes, gene expression, intellectual disability, motor behavior, model comparison
- MeSH terms
- Animals, Animals, Newborn, Behavior, Animal, Brain, Disease Models, Animal, Down Syndrome, Female, Gene Expression Regulation, Hippocampus, Longevity, Male, Mice, Inbred C57BL, Motor Activity, Neurons, Phenotype, Genome, Neurogenesis
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