{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:04:48Z","timestamp":1792145088972,"version":"4.4.0"},"reference-count":42,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5743","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2005,9,23]]},"abstract":"<jats:p>Aneuploidies are common chromosomal defects that result in growth and developmental deficits and high levels of lethality in humans. To gain insight into the biology of aneuploidies, we manipulated mouse embryonic stem cells and generated a trans-species aneuploid mouse line that stably transmits a freely segregating, almost complete human chromosome 21 (Hsa21). This \u00e2\u0080\u009ctranschromosomic\u00e2\u0080\u009d mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in humans, and has phenotypic alterations in behavior, synaptic plasticity, cerebellar neuronal number, heart development, and mandible size that relate to human DS. Transchromosomic mouse lines such as Tc1 may represent useful genetic tools for dissecting other human aneuploidies.<\/jats:p>","DOI":"10.1126\/science.1114535","type":"journal-article","created":{"date-parts":[[2005,9,22]],"date-time":"2005-09-22T16:58:23Z","timestamp":1127408303000},"page":"2033-2037","source":"Crossref","is-referenced-by-count":396,"title":["An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes"],"prefix":"10.1126","volume":"309","author":[{"given":"Aideen","family":"O'Doherty","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"Medical Research Council Prion Unit, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK."},{"name":"Centre for Haematology, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine, 4 Newark Street, London E1 2AT, UK."},{"name":"Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Ruf","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"Medical Research Council Prion Unit, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK."},{"name":"Centre for Haematology, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine, 4 Newark Street, London E1 2AT, UK."},{"name":"Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, 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C.","family":"Fisher","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"Medical Research Council Prion Unit, Institute of Neurology, Queen Square, London WC1N 3BG, UK."},{"name":"National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK."},{"name":"Centre for Haematology, Institute of Cell and Molecular Science, Barts and The London, Queen Mary's School of Medicine, 4 Newark Street, London E1 2AT, UK."},{"name":"Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.12.1853"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-28"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1448"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1105226"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(03)00769-8"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-177"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.11.6256"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.227"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/325733a0"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0697-133"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.2.722"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.923"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01743-6"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170028"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1163"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1006\/excr.1996.3418"},{"key":"e_1_3_1_18_2","unstructured":"Materials and methods are available as supporting material on Science Online."},{"key":"e_1_3_1_19_2","unstructured":"The name Tc(Hsa21)1TybEmcf which we have shortened to Tc1 is the official name given by the Mouse Nomenclature Committee."},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026741321193"},{"key":"e_1_3_1_21_2","first-page":"1177","volume":"89","year":"2004","unstructured":"L. Devlin, P. J. Morrison, Arch. Dis. Child.89, 1177 (2004).","journal-title":"Arch. Dis. Child."},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1766-04.2004"},{"key":"e_1_3_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0028-3908(97)00157-3"},{"key":"e_1_3_1_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/361031a0"},{"key":"e_1_3_1_25_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0406344101"},{"key":"e_1_3_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nlm.2004.03.005"},{"key":"e_1_3_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0149-7634(01)00041-0"},{"key":"e_1_3_1_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00177912"},{"key":"e_1_3_1_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.2.195"},{"key":"e_1_3_1_30_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098992"},{"key":"e_1_3_1_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20079"},{"key":"e_1_3_1_32_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1997.00550140077016"},{"key":"e_1_3_1_33_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530050049011"},{"key":"e_1_3_1_34_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.2.356"},{"key":"e_1_3_1_35_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200405000-00003"},{"key":"e_1_3_1_36_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(200002)217:2<137::AID-DVDY1>3.0.CO;2-N"},{"key":"e_1_3_1_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10175"},{"key":"e_1_3_1_38_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199808000-00019"},{"key":"e_1_3_1_39_2","doi-asserted-by":"publisher","DOI":"10.1159\/000472398"},{"key":"e_1_3_1_40_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.4997"},{"key":"e_1_3_1_41_2","first-page":"179","year":"1998","unstructured":"L. Y. Hsu, in Genetic Disorders and the Fetus, A. Milunsky, Ed. (Johns Hopkins Univ. Press, Baltimore, MD, 1998), pp. 179\u00e2\u0080\u0093248.","journal-title":"Genetic Disorders and the Fetus"},{"key":"e_1_3_1_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_3_1_43_2","unstructured":"We thank the Wellcome Trust the Medical Research Council the Leukaemia Research Fund the Barts and the London Charitable Foundation and the British Heart Foundation for support A. Voss for the MPI VI ES cell line P. Choquet for help with CT scans R. Young for graphics and R. Reeves for helpful comments. Gene array data are deposited at European Molecular Biology Laboratory\u00e2\u0080\u0093European Bioinformatics Institute with accession number E-MEXP-409."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1114535","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T21:51:58Z","timestamp":1704837118000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1114535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,23]]},"references-count":42,"journal-issue":{"issue":"5743","published-print":{"date-parts":[[2005,9,23]]}},"alternative-id":["10.1126\/science.1114535"],"URL":"https:\/\/doi.org\/10.1126\/science.1114535","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1028134.336014","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1028134.342618","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1028134.338118","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1028134.335060","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1028134.336052","asserted-by":"object"}]},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,23]]}}}