Ts66Yah, a mouse model of down syndrome with improved construct and face validity
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Abstract
Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). The understanding of genotype–phenotype relationships, the identification of driver genes and various proofs of concept for therapeutics have benefited from mouse models. The premier model, named Ts(1716)65Dn/J (Ts65Dn), displayed phenotypes related to human DS features. It carries an additional minichromosome with the Mir155 to Zbtb21 region of mouse chromosome 16, homologous to Hsa21, encompassing around 90 genes, fused to the centromeric part of mouse chromosome 17 from Pisd-ps2/Scaf8 to Pde10a, containing 46 genes not related to Hsa21. Here, we report the investigation of a new model, Ts66Yah, generated by CRISPR/Cas9 without the genomic region unrelated to Hsa21 on the minichromosome. As expected, Ts66Yah replicated DS cognitive features. However, certain phenotypes related to increased activity, spatial learning and molecular signatures were changed, suggesting genetic interactions between the Mir155-Zbtb21 and Scaf8-Pde10a intervals. Thus, Ts66Yah mice have stronger construct and face validity than Ts65Dn mice for mimicking consequences of DS genetic overdosage. Furthermore, this study is the first to demonstrate genetic interactions between triplicated regions homologous to Hsa21 and others unrelated to Hsa21. This article has an associated First Person interview with the first author of the paper.
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With the development of the Ts66Yah and other DS mouse models, the contributions of these non-Hsa21 genes are becoming understood.
“With the development of the Ts66Yah and other DS mouse models, the contributions of these non-Hsa21 genes are becoming understood (Duchon et al., 2022; Xing et al., 2023).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Duchon et al., 2022
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Cites
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106 · see citing works
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206 · see citing works
Vandesompele, J., De Preter, K., Pattyn, F., Poppe, B., Van Roy, N., De Paepe, A., & Speleman, F. (2002) · Genome Biology · doi:10.1186/gb-2002-3-7-research0034 · Cited by 20,038 · see citing works
N4ITK: Improved N3 Bias Correction
Tustison, N. J., Avants, B., Cook, P. A., Zheng, Y., Egan, A., Yushkevich, P. A., & Gee, J. C. (2010) · IEEE Transactions on Medical Imaging · doi:10.1109/tmi.2010.2046908 · Cited by 6,119 · see citing works
Avants, B., Epstein, C. L., Grossman, M., & Gee, J. C. (2007) · Medical Image Analysis · doi:10.1016/j.media.2007.06.004 · Cited by 5,618 · see citing works
Morris water maze: procedures for assessing spatial and related forms of learning and memory
Vorhees, C. V., & Williams, M. T. (2006) · Nature Protocols · doi:10.1038/nprot.2006.116 · Cited by 4,629 · see citing works
CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens
Concordet, J., & Haeussler, M. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky354 · Cited by 2,354 · see citing works
geomorph: an r package for the collection and analysis of geometric morphometric shape data
Adams, D. C., & Otárola‐Castillo, E. (2013) · Methods in Ecology and Evolution · doi:10.1111/2041-210x.12035 · Cited by 2,184 · see citing works
Warfield, S. K., Zou, K. H., & Wells, W. M. (2004) · IEEE Transactions on Medical Imaging · doi:10.1109/tmi.2004.828354 · Cited by 2,072 · see citing works
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990 · see citing works
Haeussler, M., Schönig, K., Eckert, H., Eschstruth, A., Mianné, J., Renaud, J.-B., Schneider-Maunoury, S., Shkumatava, A., Teboul, L., Kent, J., et al. (2016) · Genome biology · doi:10.1186/s13059-016-1012-2 · Cited by 1,756 · see citing works
GAGE: generally applicable gene set enrichment for pathway analysis
Luo, W., Friedman, M. S., Shedden, K., Hankenson, K. D., & Woolf, P. J. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-161 · Cited by 1,333 · see citing works
Bevins, R. A., & Besheer, J. (2006) · Nature Protocols · doi:10.1038/nprot.2006.205 · Cited by 1,278 · see citing works
A mouse model for Down syndrome exhibits learning and behaviour deficits
Reeves, R. H., Irving, N. G., Moran, T. H., Wohn, A., Kitt, C., Sisodia, S. S., Schmidt, C., Bronson, R. T., & Davisson, M. T. (1995) · Nature Genetics · doi:10.1038/ng1095-177 · Cited by 913 · see citing works
Crawley, J. N. (1999) · Brain Research · doi:10.1016/s0006-8993(98)01258-x · Cited by 762 · see citing works
Hughes, R. N. (2004) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2004.06.006 · Cited by 641 · cited 1× · see citing works
“Short-term memory was assessed by recording spontaneous alternation in the Y-maze test (Hughes, 2004).”
Assessing rodent hippocampal involvement in the novel object recognition task. A review
Cohen, S. J., & Stackman, R. W. (2014) · Behavioural Brain Research · doi:10.1016/j.bbr.2014.08.002 · Cited by 592 · see citing works
Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome
Fernandez, F., Morishita, W., Zuniga, E., Nguyen, J., Blank, M., Malenka, R. C., & Garner, C. C. (2007) · Nature Neuroscience · doi:10.1038/nn1860 · Cited by 509 · see citing works
Digging and marble burying in mice: simple methods for in vivo identification of biological impacts
Deacon, R. M. J. (2006) · Nature Protocols · doi:10.1038/nprot.2006.20 · Cited by 508 · see citing works
Ma, Y., Hof, P. R., Grant, S. C., Blackband, S. J., Bennett, R., Slatest, L. A., McGuigan, M., & Benveniste, H. (2005) · Neuroscience · doi:10.1016/j.neuroscience.2005.07.014 · Cited by 441 · see citing works
An Aneuploid Mouse Strain Carrying Human Chromosome 21 with down Syndrome Phenotypes.
O'Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M. L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D., et al. (2005) · Science · doi:10.1126/science.1114535 · Cited by 434 · see citing works
(1990) · PubMed · Cited by 351 · see citing works
Aït Yahya-Graison, E., Aubert, J., Dauphinot, L., Rivals, I., Prieur, M., Golfier, G., Rossier, J., Personnaz, L., Créau, N., Bléhaut, H., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/520000 · Cited by 338 · see citing works
Self-citationAccurate multiplexing and filtering for high-throughput amplicon-sequencing
Esling, P., Lejzerowicz, F., & Pawlowski, J. W. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv107 · Cited by 331 · see citing works
(1993) · PubMed · Cited by 301 · see citing works
Parallels of craniofacial maldevelopment in down syndrome and Ts65Dn mice
Richtsmeier, J. T., Baxter, L. L., & Reeves, R. H. (2000) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(200002)217:2 · Cited by 255 · see citing works
Yonemura, S., Matsui, T., Tsukita, S., & Tsukita, S. (2002) · Journal of Cell Science · doi:10.1242/jcs.115.12.2569 · Cited by 243 · see citing works
Olmos-Serrano, J. L., Kang, H. J., Tyler, W. A., Silbereis, J. C., Cheng, F., Zhu, Y., Pletikos, M., Jankovic-Rapan, L., Cramer, N. P., Galdzicki, Z., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.042 · Cited by 239 · see citing works
Duchon, A., Raveau, M., Chevalier, C., Nalesso, V., Sharp, A. J., & Herault, Y. (2011) · Mammalian Genome · doi:10.1007/s00335-011-9356-0 · Cited by 224 · see citing works
Self-citationNeurocognitive Aging and the Hippocampus across Species
Leal, S. L., & Yassa, M. A. (2015) · Trends in Neurosciences · doi:10.1016/j.tins.2015.10.003 · Cited by 207 · see citing works
Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0266-3 · Cited by 193 · see citing works
Rodent models in Down syndrome research: impact and future opportunities
Hérault, Y., Delabar, J. M., Fisher, E., Tybulewicz, V. L. J., Yu, E. Y., & Brault, V. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029728 · Cited by 191 · see citing works
Duchon, A., & Herault, Y. (2016) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2016.00104 · Cited by 181 · see citing works
Self-citationMartı́nez-Cué, C., Baamonde, C., Lumbreras, M., Paz, J., Davisson, M. T., Schmidt, C., Dierssen, M., & Flórez, J. (2002) · Behavioural Brain Research · doi:10.1016/s0166-4328(02)00026-8 · Cited by 166 · see citing works
Fold change rank ordering statistics: a new method for detecting differentially expressed genes
Dembélé, D., & Kastner, P. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-14 · Cited by 140 · see citing works
Kazuki, Y., Gao, F. J., Li, Y., Moyer, A. J., Devenney, B., Hiramatsu, K., Miyagawa-Tomita, S., Abe, S., Kazuki, K., Kajitani, N., et al. (2020) · eLife · doi:10.7554/elife.56223 · Cited by 125 · see citing works
Aziz, N. M., Guedj, F., Pennings, J. L. A., Olmos-Serrano, J. L., Siegel, A., Haydar, T. F., & Bianchi, D. W. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031013 · Cited by 118 · see citing works
García-Cerro, S., Rueda, N., Vidal, V., Lantigua, S., & Martínez-Cué, C. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.06.010 · Cited by 100 · see citing works
Matsumoto, S., Fujii, S., Sato, A., Ibuka, S., Kagawa, Y., Ishii, M., & Kikuchi, A. (2014) · The EMBO Journal · doi:10.1002/embj.201386942 · Cited by 89 · see citing works
Catuara‐Solarz, S., Espinosa‐Carrasco, J., Erb, I., Langohr, K., González, J. R., Notredame, C., & Dierssen, M. (2016) · eNeuro · doi:10.1523/eneuro.0103-16.2016 · Cited by 87 · see citing works
Nguyen, T. L., Duchon, A., Manousopoulou, A., Loaëc, N., Villiers, B., Pani, G., Karatas, M., Mechling, A. E., Harsan, L. A., Limanton, E., et al. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.035634 · Cited by 87 · see citing works
Self-citationGenotype–Phenotype Correlation of Mouse Pde6b Mutations
Hart, A. W., McKie, L., Morgan, J. E., Gautier, P. E., West, K. M., Jackson, I. J., & Cross, S. H. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0254 · Cited by 80 · see citing works
Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE
Birling, M., Schaeffer, L., André, P., Lindner, L., Maréchal, D., Ayadi, A., Sorg, T., Pavlovic, G., & Hérault, Y. (2017) · Scientific Reports · doi:10.1038/srep43331 · Cited by 76 · see citing works
Self-citationNakano-Kobayashi, A., Awaya, T., Kii, I., Sumida, Y., Okuno, Y., Yoshida, S., Sumida, T., Inoue, H., Hosoya, T., & Hagiwara, M. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1704143114 · Cited by 71 · see citing works
Neumann, F., Gourdain, S., Albac, C., Dekker, A. D., Bui, L. C., Dairou, J., Schmitz-Afonso, I., Hue, N., Rodrigues-Lima, F., Delabar, J. M., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-20984-z · Cited by 71 · see citing works
Self-citationThe Role of the Human Entorhinal Cortex in a Representational Account of Memory
Schultz, H., Sommer, T., & Peters, J. (2015) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2015.00628 · Cited by 70 · see citing works
Ling, K., Hewitt, C., Tan, K.-L., Cheah, P.-S., Vidyadaran, S., Lai, M. I., Lee, H.-C., Simpson, K., Hyde, L., Pritchard, M. A., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-624 · Cited by 66 · see citing works
Absence of Prenatal Forebrain Defects in the Dp(16)1Yey/+ Mouse Model of down Syndrome.
Goodliffe, J. W., Olmos-Serrano, J. L., Aziz, N. M., Pennings, J. L. A., Guedj, F., Bianchi, D. W., & Haydar, T. F. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.2513-15.2016 · Cited by 65 · see citing works
Guedj, F., Pennings, J. L. A., Massingham, L. J., Wick, H. C., Siegel, A. E., Tantravahi, U., & Bianchi, D. W. (2016) · Scientific Reports · doi:10.1038/srep32353 · Cited by 59 · see citing works
Nagamani, S. C. S., Erez, A., Eng, C. M., Ou, Z., Chinault, A. C., Workman, L. A., Coldwell, J. G., Stankiewicz, P., Patel, A., Lupski, J. R., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.220 · Cited by 56 · see citing works
Maréchal, D., Brault, V., Léon, A., Martin, D., Pereira, P. L., Loaëc, N., Birling, M., Friocourt, G., Blondel, M., & Hérault, Y. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddy447 · Cited by 56 · see citing works
Self-citation"Sighted C3H" mice - a tool for analysing the influence of vision on mouse behaviour?
Hölter, S. M. (2008) · Frontiers in bioscience · doi:10.2741/3118 · Cited by 50 · see citing works
Starbuck, J. M., Dutka, T., Ratliff, T. S., Reeves, R. H., & Richtsmeier, J. T. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36594 · Cited by 50 · see citing works
Goeldner, C., Reiss, D., Wichmann, J., Kieffer, B. L., & Ouagazzal, A. (2009) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2008.12.001 · Cited by 46 · see citing works
Shaw, P. R., Klein, J. A., Aziz, N. M., & Haydar, T. F. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.046243 · Cited by 45 · see citing works
Duchon, A., Moreno, M. D. M. M., Lorenzo, S. M., de Souza, M. P. S., Chevalier, C., Nalesso, V., Méziane, H., de Sousa, P. L., Noblet, V., Armspach, J., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab012 · Cited by 38 · see citing works
Self-citationHeller, H. C., Salehi, A., Chuluun, B., Das, D., Lin, B., Moghadam, S., Garner, C. C., & Colas, D. (2014) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2014.10.002 · Cited by 36 · see citing works
Codner, G. F., Lindner, L., Caulder, A., Wattenhofer‐Donzé, M., Radage, A., Mertz, A., Eisenmann, B., Mianné, J., Evans, E. P., BEECHEY, C. V., et al. (2016) · BMC Cell Biology · doi:10.1186/s12860-016-0108-6 · Cited by 35 · see citing works
Self-citationModeling Down syndrome in animals from the early stage to the 4.0 models and next
Moreno, M. D. M. M., Brault, V., Birling, M., Pavlovic, G., & Hérault, Y. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.08.001 · Cited by 32 · see citing works
Self-citationIncreased male reproductive success in Ts65Dn “Down syndrome” mice
Moore, C. S., Hawkins, C. E., Franca, A., Lawler, A. M., Devenney, B., Das, I., & Reeves, R. H. (2010) · Mammalian Genome · doi:10.1007/s00335-010-9300-8 · Cited by 24 · see citing works
Ruby, N. F., Fernandez, F., Zhang, P., Klima, J., Heller, H. C., & Garner, C. C. (2010) · Journal of Biological Rhythms · doi:10.1177/0748730409356202 · Cited by 22 · see citing works
[Letter to the Editor] PCR Prescreen for Genotyping the Ts65Dn Mouse Model of Down Syndrome
Lorenzi, H., Duvall, N., Cherry, S. M., Reeves, R. H., & Roper, R. J. (2010) · BioTechniques · doi:10.2144/000113342 · Cited by 17 · see citing works
Itohara, S., Kobayashi, Y., & Nakashiba, T. (2014) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2014.09.002 · Cited by 16 · see citing works
Loss of ezrin expression reduced the susceptibility to the glomerular injury in mice
Hatano, R., Takeda, A., Abe, Y., Kawaguchi, K., Kazama, I., Matsubara, M., & Asano, S. (2018) · Scientific Reports · doi:10.1038/s41598-018-22846-0 · Cited by 16 · see citing works
Sierra, C., Toma, I. D., Cascio, L. L., Vegas, E., & Dierssen, M. (2021) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2021.772734 · Cited by 15 · see citing works
Deletion of the App-Runx1 region in mice models human partial monosomy 21
Arbogast, T., Raveau, M., Chevalier, C., Nalesso, V., Dembélé, D., Jacobs, H., Wendling, O., Roux, M., Duchon, A., & Hérault, Y. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.017814 · Cited by 13 · see citing works
Self-citationTranslating molecular advances in Down syndrome and Fragile X syndrome into therapies
Faúndez, V., Toma, I. D., Bardoni, B., Bartesaghi, R., Nižetić, D., de la Torre, R., Kadosh, R. C., Hérault, Y., Dierssen, M., Potier, M., et al. (2018) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2018.03.006 · Cited by 13 · see citing works
Self-citationChidiac, C., Xue, Y., Moreno, M. D. M. M., Rasheed, A., Lorentz, R., Birling, M., Gavériaux‐Ruff, C., & Hérault, Y. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.780132 · Cited by 7 · see citing works
Self-citation
Flagged first, then by citations
4 of the 72 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Sawiak, S. J., Wood, N. I., Williams, G. B., Morton, A. J. and Carpenter, T. A. (2009). SPMMouse: A new toolbox for SPM in animal brain. Proc. Int. Soc. Mag. Res. Med. 17, 1086.
Cited by
Sorted by citations
Guedj, F., Kane, E., Bishop, L. A., Pennings, J. L. A., Hérault, Y., & Bianchi, D. W. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.02.012 · Cited by 36 · see citing works
Sierra, C., Sabariego-Navarro, M., Fernández‐Blanco, Á., Cruciani, S., Zamora‐Moratalla, A., Novoa, E. M., & Dierssen, M. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02440-9 · Cited by 29 · see citing works
Dysregulated systemic metabolism in a Down syndrome mouse model
Sarver, D. C., Xu, C., Vélez, L. M., Aja, S. M., Jaffe, A. E., Seldin, M. M., Reeves, R. H., & Wong, G. W. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101666 · Cited by 31 · see citing works
Xing, Z., Li, Y., Cortes-Gomez, E., Jiang, X., Gao, S., Pao, A., Shan, J., Song, Y., Perez, A., Yu, T., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad056 · Cited by 23 · see citing works
Hypermetabolism in mice carrying a near-complete human chromosome 21
Sarver, D. C., Xu, C., Rodriguez, S., Aja, S. M., Jaffe, A. E., Gao, F., Delannoy, M. R., Periasamy, M., Kazuki, Y., Oshimura, M., et al. (2023) · eLife · doi:10.7554/elife.86023 · Cited by 19 · see citing works
Lanzillotta, C., Rataj-Baniowska, M., Prestia, F., Sette, C., Nalesso, V., Marzia Perluigi, A., Barone, E., Duchon, A., Tramutola, A., Hérault, Y., et al. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106523 · Cited by 18 · see citing works
Self-citationMoyer, A. J., Fernandez, F., Li, Y., Klinedinst, D. K., Florea, L., Kazuki, Y., Oshimura, M., & Reeves, R. H. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049712 · Cited by 17 · see citing works
Neocortical neuronal production and maturation defects in the TcMAC21 mouse model of Down syndrome
Kurabayashi, N., Fujii, K., Otobe, Y., Hiroki, S., Hiratsuka, M., Yoshitane, H., Kazuki, Y., & Takao, K. (2023) · iScience · doi:10.1016/j.isci.2023.108379 · Cited by 13 · see citing works
Hawley, L. E., Stringer, M., Deal, A. J., Folz, A., Goodlett, C. R., & Roper, R. J. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106359 · Cited by 10 · see citing works
“…do exhibit deficient neurological structural phenotypes in brain regions where we found DYRK1A overexpression including during perinatal or early postnatal ages (Baxter et al., 2000; Belichenko et al., 2004; Bianchi et al., 2010; Chakrabarti et al., 2007; Roper et al., 2006b; Stagni et al., 2016).”
BackgroundRusu, B., Kukreja, B., Wu, T., Dan, S. J., Feng, M.-Y., & Kalish, B. (2023) · eNeuro · doi:10.1523/eneuro.0147-23.2023 · Cited by 2 · see citing works
Ultrasonic vocalization phenotypes in the Ts65Dn and Dp(16)1Yey mouse models of Down syndrome
Glass, T. J., Lenell, C., Fisher, E. H., Yang, Q., & Connor, N. P. (2023) · Physiology & Behavior · doi:10.1016/j.physbeh.2023.114323 · Cited by 9 · see citing works
Molecular cartography of the human down syndrome and trisomic mouse brain
Feng, M. Y., Cao, W., Tahmasian, N., Kukreja, B., Li, G. L., Rusu, B., Youn, J., & Kalish, B. T. (2025) · Nature Communications · doi:10.1038/s41467-025-63752-0 · Cited by 9 · see citing works
Sex-specific trisomic Dyrk1a-related skeletal phenotypes during development in a Down syndrome model
LaCombe, J., Sloan, K., Thomas, J. R., Blackwell, M. P., Crawford, I., Bishop, F., Wallace, J. M., & Roper, R. J. (2024) · Disease Models & Mechanisms · doi:10.1242/dmm.050914 · Cited by 9 · see citing works
Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome
Adams, A. D., Lin, J., Bianchi, D. W., Bishop, L. A., Sato, T., Baxter, L. L., Hoffmann, V. J., Koehly, L. M., & Guedj, F. (2023) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2023.07.056 · Cited by 7 · see citing works
Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models
Saavedra, J. T. A., Chevalier, C., Bloch‐Zupan, A., & Hérault, Y. (2025) · PLoS Genetics · doi:10.1371/journal.pgen.1011873 · Cited by 8 · see citing works
Self-citationScott-McKean, J. J., Jones, R., Johnson, M. W., Mier, J., Basten, I. A., Stasko, M. R., & Costa, A. C. S. (2023) · Brain Sciences · doi:10.3390/brainsci13050743 · Cited by 5 · see citing works
Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations
Stafstrom, C. E., & Shao, L. (2024) · Children · doi:10.3390/children11121513 · Cited by 5 · see citing works
Glutamatergic synaptic deficits in the prefrontal cortex of the Ts65Dn mouse model for Down syndrome
Thomazeau, A., Lassalle, O., & Manzoni, O. J. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1171797 · Cited by 5 · see citing works
Compromised femoral and lumbovertebral bone in the Dp(16)1Yey Down syndrome mouse model
Lamantia, J., Sloan, K., Wallace, J. M., & Roper, R. J. (2024) · Bone · doi:10.1016/j.bone.2024.117046 · Cited by 5 · see citing works
Moreau, M., Dard, R., Madani, A., Kandiah, J., Kassis, N., Ziga, J., Castiglione, H., Day, S., Bourgeois, T., Matrot, B., et al. (2024) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-024-05245-9 · Cited by 4 · see citing works
Pushpakumar, S. B., Singh, M., Sen, U., Tyagi, N., & Tyagi, S. C. (2023) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-023-04761-9 · Cited by 4 · see citing works
Role of cystathionine-β-synthase and hydrogen sulfide in down syndrome
Szabó, C. (2025) · Neurotherapeutics · doi:10.1016/j.neurot.2025.e00584 · Cited by 4 · see citing works
LaCombe, J., Sloan, K., Thomas, J. R., Blackwell, M. P., Crawford, I., Wallace, J. M., & Roper, R. J. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.24.595804 · Cited by 4 · see citing works
Vertebrate and Invertebrate Animal Models for the Study of Down Syndrome
Granholm, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26168092 · Cited by 3 · see citing works
Tielemans, B., Llambrich, S., Seldeslachts, L., Cremer, J., Tsui, H.-C., Jonckheere, A., Marain, F., Riedel, M., Wouters, J., Herzen, J., et al. (2025) · Pharmaceutics · doi:10.3390/pharmaceutics17111366 · Cited by 3 · see citing works
Domenico, F. D., Greco, V., Tramutola, A., Rataj-Baniowska, M., Barone, E., Lanzillotta, C., Pieroni, L., Butterfield, D. A., Hérault, Y., Pagnotta, S. E., et al. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05432-0 · Cited by 3 · see citing works
Rataj-Baniowska, M., Mumford, P., Prestia, F., Stephan, P., Beament, M., Birling, M., Lanzillotta, C., Ciafardini, L., Barone, E., Lau, G., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71498 · Cited by 3 · see citing works
Self-citationNeuronal oscillations in cognition: Down syndrome as a model of mouse to human translation
Chang, P., Pérez-González, M., Constable, J., Bush, D., Cleverley, K., Tybulewicz, V. L. J., Fisher, E., & Walker, M. C. (2024) · The Neuroscientist · doi:10.1177/10738584241271414 · Cited by 3 · see citing works
Hannan, S., Lana-Elola, E., Watson-Scales, S., Fisher, E. M. C., Tybulewicz, V. L. J., & Smart, T. G. (2025) · bioRxiv · doi:10.1101/2025.07.21.665861 · Cited by 3 · see citing works
Ganguly, B. B., & Kadam, N. N. (2024) · Gene Reports · doi:10.1016/j.genrep.2024.102106 · Cited by 3 · see citing works
Tramutola, A., Lanzillotta, C., Domenico, F. D., Barone, E., & Marzia Perluigi, A. (2026) · Antioxidants · doi:10.3390/antiox15040520 · Cited by 2 · see citing works
Comparative analysis of craniofacial shape in two mouse models of Down syndrome: Ts65Dn and TcMAC21
Singh, N., Richtsmeier, J. T., & Reeves, R. H. (2024) · Journal of Anatomy · doi:10.1111/joa.14012 · Cited by 2 · see citing works
Emili, M., Stagni, F., Guidi, S., Russo, C. A., Chevalier, C., Duchon, A., Hérault, Y., & Bartesaghi, R. (2025) · Neuroscience Letters · doi:10.1016/j.neulet.2025.138156 · Cited by 2 · see citing works
Self-citationGuedj, F., Kane, E., Bishop, L. A., Pennings, J. L. A., Hérault, Y., & Bianchi, D. W. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.23.509067 · Cited by 2 · see citing works
Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476.3 · Cited by 1 · see citing works
Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome modelsPreprint
Saavedra, J. T. A., Chevalier, C., Bloch‐Zupan, A., & Hérault, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.13.612914 · Cited by 1 · see citing works
Self-citationGene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse modelPreprint
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476 · Cited by 1 · see citing works
(2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049964
Arthun, J., Aldaz, S., Hayes, P., Roberts, J. S., & Olson, L. E. (2023) · PubMed Central · doi:10.17912/micropub.biology.000981
Lanzillotta, C., Rataj-Baniowska, M., Prestia, F., Sette, C., Nalesso, V., Marzia Perluigi, A., Barone, E., Duchon, A., Tramutola, A., Hérault, Y., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.02.573811
Self-citationFolz, A., Sloan, K., & Roper, R. J. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_1
Impact of Cre/LoxP-Mediated Chromosome Engineering Technology on Down Syndrome Research
Xing, Z., Douglas, A., Pao, A., Glass, T. J., Connor, N. P., & Yu, Y. E. (2025) · Springer eBooks · doi:10.1007/978-3-031-78611-2_2
Bartesaghi, R., Chen, X., Johnstone, A. D., Das, U., & Mobley, W. C. (2025) · Springer eBooks · doi:10.1007/978-3-031-89307-0_19
Down Syndrome-related Copper Disturbance in the Brain
Ishihara, K. (2025) · Royal Society of Chemistry eBooks · doi:10.1039/9781837677955-00198
The endocannabinoid system in intellectual disability
Vázquez-Oliver, A., Reyes‐Ramírez, L. D. L., Galera-López, L., & Ozaita, A. (2025) · Handbook of behavioral neuroscience · doi:10.1016/b978-0-443-13908-6.00022-0
Sato, T., Baxter, L. L., Adams, A., Bishop, L. A., Guedj, F., & Bianchi, D. W. (2025) · Biology Open · doi:10.1242/bio.062296
Sloan, K., Piner, K. M., Arachchige, P. R. N. K., Goodlett, C. R., Hérault, Y., Olbricht, G. R., Wallace, J. M., & Roper, R. J. (2026) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkag056
Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse modelPreprint
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476.1
Alldred, M. J., Ibrahim, K. W., Pidikiti, H., Lee, S. H., Heguy, A., Chiosis, G., Mufson, E. J., Stutzmann, G. E., & Ginsberg, S. D. (2026) · The FASEB Journal · doi:10.1096/fj.202504243r
Restoring RCAN1 dosage mitigates sleep and EEG abnormalities in a Down syndrome model
Cain, P., Milstead, R. A., Griffioen, M., Wong, H., Borski, C., Cooper‐Sansone, A., LaPlante, L., Kastengren, K., Cotto, S., Hanson, J. L., et al. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107375
Craniofacial analysis of Down syndrome rodent models
Saavedra, J. T. A. (2024) · doi:10.70675/064b45abz323ez478ez93ddz8ce0747170c2
Buckman, M. A., Vasileva, A., Kalra, H., Edwin, I., Ma, G., Vasilyev, M., London, B., Jedlicka, C. R., Beasley, G., Breheny, P. J., et al. (2026) · Physiology · doi:10.1152/physiol.2026.41.s1.2293068
Jehl, J., Nalesso, V., Chevalier, C., Brault, V., Potier, M., Ey, E., & Hérault, Y. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.12.724517
Self-citationDuchon, A., Chevalier, C., Gizzi, P., Dairou, J., & Hérault, Y. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.13.724917
Self-citationDomenico, F. D., Marzia Perluigi, A., Tramutola, A., Bacalini, M. G., Victorino, D. B., Barroeta, I., Bartesaghi, R., Carfì, A., Carmona‐Iragui, M., Cohen, A. D., et al. (2026) · NeuroMolecular Medicine · doi:10.1007/s12017-026-08921-0
Self-citationGene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse modelPreprint
Chen, F., Saqib, M., Nguyen, C. M., Sarver, D. C., Yu, Y. E., Aja, S. M., Seldin, M. M., & Wong, G. W. (2026) · eLife · doi:10.7554/elife.110476.2
Stafstrom, C. E., & Shao, L. (2026) · Journal of Clinical Medicine · doi:10.3390/jcm15197471
- Authors
- Duchon, A., del Mar Muñiz Moreno, M., Chevalier, C., Nalesso, V., Andre, P., Fructuoso-Castellar, M., Mondino, M., Po, C., Noblet, V., Birling, M.-C., Potier, M.-C., & Herault, Y.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) 1 , Department of Translational Medicine and Neurogenetics, 1 rue Laurent Fries, 67404 Illkirch-Graffenstaden , France
- Université de Strasbourg, CNRS, INSERM, CELPHEDIA, PHENOMIN-Institut Clinique de la Souris (ICS) 2 , 1 rue Laurent Fries, 67404 Illkirch-Graffenstaden , France
- Paris Brain Institute ICM, Hôpital de la Pitié-Salpêtrière 3 , 75013 Paris , France
- ORCID
- Venue
- Disease Models & Mechanisms
- Publisher
- The Company of Biologists
- Published
- 2022-12-01
- Volume
- 15
- Issue
- 12
- Pages
- dmm049721
- ISSN
- 1754-8403 (ISSN-L)
- 1754-8411
- PMC
- PMC9789398
- OpenAlex
- W4308954859
- Cited by
- 58
- References
- 72
- Citations by year
- 2026: 14 · 2025: 14 · 2024: 14 · 2023: 13 · 2022: 3
- FWCI
- 9.71
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Disease Models & Mechanisms (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Sisley-d'Ornano Foundation
- Fondation Jérôme Lejeune
- Centre National de la Recherche Scientifique
- Institut National de la Santé et de la Recherche Médicale
- Université de Strasbourg
- Agence Nationale de la Recherche (ANR-10-IDEX-0002, ANR-18-CE16-0020, ANR-17-JPCD-0003, ANR-10-IDEX-0002-02, ANR-17-EURE-0023, ANR 20-SFRI-0012)
- Horizon 2020 Framework Programme (GO-DS21 848077)
- 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 chromosome 16, genetic interactions, construct validity, face validity, cognitive phenotypes, spatial learning, genotype-phenotype correlation
- MeSH terms
- Animals, Down Syndrome, Humans, Phosphoric Diester Hydrolases, Mice
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