Article
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes).
Development, growth & differentiation - 1 Jun 2012
Morita Akihiro, Nakahira Kumiko, Hasegawa Taeko, Uchida Kaoru, Taniguchi Yoshihito, Takeda Shunichi, Toyoda Atsushi, Sakaki Yoshiyuki, Shimada Atsuko, Takeda Hiroyuki, Yanagihara Itaru
Abstract excerpt
Roberts syndrome and SC phocomelia (RBS/SC) are genetic autosomal recessive syndromes caused by establishment of cohesion 1 homolog 2 ( ESCO 2) mutation. RBS/SC appear to have a variety of clinical features, even with the same mutation of the ESCO2 gene. Here, we established and genetically characterized a medaka model of RBS/SC by reverse genetics. The RBS/SC model was screened from a mutant medaka library...
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