{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:58:54Z","timestamp":1779364734880,"version":"3.53.0"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,29]],"date-time":"2018-03-29T00:00:00Z","timestamp":1522281600000},"content-version":"am","delay-in-days":365,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T00:00:00Z","timestamp":1490745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003382","name":"Core Research for Evolutional Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003382","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008373","name":"Takeda Pharmaceutical Company","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008373","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes to Cells"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. <jats:italic>Nephronophthisis\u20101<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>1<\/jats:italic>) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, ataxia, and sometimes associated with cognitive impairment. <jats:italic><jats:styled-content style=\"fixed-case\">NPHP<\/jats:styled-content>1<\/jats:italic> encodes a ciliary protein, nephrocystin\u20101, which is expressed in the brain, yet its function in the brain remains largely unknown. In this study, we generated bacterial artificial chromosome\u2010based transgenic mice, called <jats:italic>2q13 dup<\/jats:italic>, that recapitulate human chromosome 2q13 duplication and contain one extra copy of the <jats:italic>Nphp1<\/jats:italic> transgene. To analyze any behavioral alterations in <jats:italic>2q13 dup<\/jats:italic> mice, we conducted a battery of behavioral tests. Although <jats:italic>2q13 dup<\/jats:italic> mice show no significant differences in social behavior, they show deficits in spontaneous alternation behavior and fear memory. We also carried out magnetic resonance imaging to confirm whether copy number gain in this locus affects the neuroanatomy. There was a trend toward a decrease in the cerebellar paraflocculus of <jats:italic>2q13 dup<\/jats:italic> mice. This is the first report of a genetic mouse model for human 2q13 duplication.<\/jats:p>","DOI":"10.1111\/gtc.12487","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T05:56:44Z","timestamp":1490767004000},"page":"436-451","source":"Crossref","is-referenced-by-count":9,"title":["Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication"],"prefix":"10.1111","volume":"22","author":[{"given":"Keiko","family":"Kishimoto","sequence":"first","affiliation":[{"name":"RIKEN Brain Science Institute (BSI) Wako Saitama 351\u20100198 Japan"},{"name":"Graduate School of Biomedical Sciences Hiroshima University Minami Hiroshima 734\u20108553 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Nomura","sequence":"additional","affiliation":[{"name":"RIKEN Brain Science Institute (BSI) Wako Saitama 351\u20100198 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Ellegood","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre (MICe) Hospital for Sick Children Toronto ON M5T 3H7 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Fukumoto","sequence":"additional","affiliation":[{"name":"RIKEN Brain Science Institute (BSI) Wako Saitama 351\u20100198 Japan"},{"name":"Graduate School of Biomedical Sciences Hiroshima University Minami Hiroshima 734\u20108553 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason P.","family":"Lerch","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre (MICe) Hospital for Sick Children Toronto ON M5T 3H7 Canada"},{"name":"Department of Medical Biophysics University of Toronto Toronto ON M5S 1A1 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Moreno\u2010De\u2010Luca","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Psychiatry Department of Psychiatry and Human Behavior Brown University Providence RI 02908 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bourgeron","sequence":"additional","affiliation":[{"name":"Institute Pasteur Paris 75015 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Tamada","sequence":"additional","affiliation":[{"name":"RIKEN Brain Science Institute (BSI) Wako Saitama 351\u20100198 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7153-266X","authenticated-orcid":false,"given":"Toru","family":"Takumi","sequence":"additional","affiliation":[{"name":"RIKEN Brain Science Institute (BSI) Wako Saitama 351\u20100198 Japan"},{"name":"Graduate School of Biomedical Sciences Hiroshima University Minami Hiroshima 734\u20108553 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31390"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.20683"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12037"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2008.03.037"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2013.112"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1469"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1986.tb14617.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002130000370"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/nimg.2001.1037"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2012.00058"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-149"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/dev.420260202"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2004.06.006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp068"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn231"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.06085"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3303"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2007.08.033"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.017"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2014.08.108"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.519"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi264"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.039"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0107705"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70011-5"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756-6606-1-7"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2015.00141"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.04.024"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00217.2005"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.61"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V112270"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30229"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1086\/421846"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6586"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37269"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.10.020"},{"key":"e_1_2_6_40_1","first-page":"e50871","article-title":"Contextual and cued fear conditioning test using a video analyzing system in mice","volume":"85","author":"Shoji H.","year":"2014","journal-title":"J. Vis. Exp."},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2851"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1344"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00213-008-1437-8"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0015126"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.04.008"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.07.016"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0050297"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000194"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12991-014-0022-2"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0166665"}],"container-title":["Genes to Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fgtc.12487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/gtc.12487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/gtc.12487","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1111\/gtc.12487","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/gtc.12487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T17:49:52Z","timestamp":1694281792000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/gtc.12487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,29]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1111\/gtc.12487"],"URL":"https:\/\/doi.org\/10.1111\/gtc.12487","archive":["Portico"],"relation":{},"ISSN":["1356-9597","1365-2443"],"issn-type":[{"value":"1356-9597","type":"print"},{"value":"1365-2443","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,29]]}}}