{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:18:09Z","timestamp":1791087489603,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,6,13]],"date-time":"2012-06-13T00:00:00Z","timestamp":1339545600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dev Growth Differ"],"published-print":{"date-parts":[[2012,6]]},"abstract":"Roberts syndrome and SC<\/jats:styled-content> phocomelia (RBS<\/jats:styled-content>\/SC<\/jats:styled-content>) are genetic autosomal recessive syndromes caused by establishment of cohesion 1 homolog 2<\/jats:italic> (\nESCO<\/jats:italic>\n<\/jats:styled-content>\n2<\/jats:italic>) mutation. RBS<\/jats:styled-content>\/SC<\/jats:styled-content> appear to have a variety of clinical features, even with the same mutation of the \nESCO<\/jats:styled-content>2<\/jats:italic> gene. Here, we established and genetically characterized a medaka model of RBS<\/jats:styled-content>\/SC<\/jats:styled-content> by reverse genetics. The RBS<\/jats:styled-content>\/SC<\/jats:styled-content> model was screened from a mutant medaka library produced by the T<\/jats:styled-content>argeting Induced L<\/jats:styled-content>ocal L<\/jats:styled-content>esions in G<\/jats:styled-content>enomes method. The medaka mutant carrying the homozygous mutation at R<\/jats:styled-content>80S<\/jats:styled-content> in the conserved region of ESCO<\/jats:styled-content>2 exhibited clinical variety (i.e. developmental arrest with craniofacial and chromosomal abnormalities and embryonic lethality) as characterized in RBS<\/jats:styled-content>\/SC<\/jats:styled-content>. Moreover, widespread apoptosis and downregulation of some gene expression, including notch1a<\/jats:italic>, were detected in the R<\/jats:styled-content>80S<\/jats:styled-content> mutant. The R80S mutant is the animal model for RBS<\/jats:styled-content>\/SC<\/jats:styled-content> and a valuable resource that provides the opportunity to extend knowledge of ESCO<\/jats:styled-content>2. Downregulation of some gene expression in the R<\/jats:styled-content>80S<\/jats:styled-content> mutant is an important clue explaining non\u2010correlation between genotype and phenotype in RBS<\/jats:styled-content>\/SC<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/j.1440-169x.2012.01362.x","type":"journal-article","created":{"date-parts":[[2012,6,14]],"date-time":"2012-06-14T01:57:43Z","timestamp":1339639063000},"page":"588-604","source":"Crossref","is-referenced-by-count":14,"title":["Establishment and characterization of R<\/scp>oberts syndrome and SC<\/scp> phocomelia model medaka (O<\/scp>ryzias latipes<\/i>)"],"prefix":"10.1111","volume":"54","author":[{"given":"Akihiro","family":"Morita","sequence":"first","affiliation":[{"name":"Department of Developmental Medicine Research Institute Osaka Medical Center for Maternal and Child Health Izumi Osaka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko","family":"Nakahira","sequence":"additional","affiliation":[{"name":"Department of Developmental Medicine Research Institute Osaka Medical Center for Maternal and Child Health Izumi Osaka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taeko","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Developmental Medicine Research Institute Osaka Medical Center for Maternal and Child Health Izumi Osaka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Uchida","sequence":"additional","affiliation":[{"name":"Department of Developmental Medicine Research Institute Osaka Medical Center for Maternal and Child Health Izumi Osaka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihito","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Department of Radiation Genetics Faculty of Medicine Kyoto University CREST Japan Science and Technology Laboratory Kyoto"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunichi","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Radiation Genetics Faculty of Medicine Kyoto University CREST Japan Science and Technology Laboratory Kyoto"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Toyoda","sequence":"additional","affiliation":[{"name":"Sequence Technology Team RIKEN Genomic Sciences Center Yokohama Kanagawa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyuki","family":"Sakaki","sequence":"additional","affiliation":[{"name":"Sequence Technology Team RIKEN Genomic Sciences Center Yokohama Kanagawa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Shimada","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Graduate School of Science University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Graduate School of Science University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itaru","family":"Yanagihara","sequence":"additional","affiliation":[{"name":"Department of Developmental Medicine Research Institute Osaka Medical Center for Maternal and Child Health Izumi Osaka"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(02)00075-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1994.1334"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.04.038"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01993-06"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.03.125"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00412-006-0072-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10577-009-9022-5"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2004.04.016"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn116"},{"key":"e_1_2_7_11_1","volume-title":"GeneReviews","author":"Gordillo M.","year":"2006"},{"key":"e_1_2_7_12_1","first-page":"835","article-title":"Develomental basis of limb evolution","volume":"46","author":"Hinchliffe J. 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