A Deletion in the Endothelin-B Receptor Gene is Responsible for the Waardenburg Syndrome-Like Phenotypes of WS4 Mice

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概要

• 論文の詳細を見る

• The WS4 mouse is an animal model for human Waardenburg syndrome type 4 (WS4), showing pigmentation anomalies, deafness and megacolon, which are caused by defects of neural crest-derived cells. We have previously reported that the gene responsible for the WS4 mouse is an allele of the piebald mutations of the endothelin B receptor gene (Ednrb). In this study, we examined the genomic sequence of the Ednrb gene in WS4 mice and found a 598-bp deletion in the gene. The deleted region contains the entire region of exon 2 and the 5' part of exon 3 and is flanked by inverted repeat sequences which are suggested to trigger the deletion. We concluded that the deletion in the Ednrb gene is the causative mutation for the phenotype of WS4 mice.

• Japanese Association for Laboratory Animal Scienceの論文

著者

• SHINKAI Yusuke

  Graduate School of Engineering, Kobe University

• Tachibana Masayoshi

  Saitama Cancer Center

• Kunieda Tetsuo

  Graduate School Of Natural Sci. And Technol. Okayama Univ.

• MATSUSHIMA Yoshibumi

  Saitama Cancer Center

• KATAYAMA Kentaro

  Graduate School of Natural Science and Technology, Okayama University

• Tsuji Takehito

  Graduate School Of Natural Science And Technology Okayama University

• Shinkai Yusuke

  Graduate School of Natural Science and Technology, Okayama University

• MATSUSHIMA Yoshibumi

  Saitama Cancer Center, Research Institute

• OHTANI Shin

  Graduate School of Natural Science and Technology, Okayama University

• HORIBE Akio

  Graduate School of Natural Science and Technology, Okayama University

• KUNIEDA Tetsuo

  Graduate School of Environmental and Life Science, Okayama University, 1-1-1 Tsushima-Naka, Kita-ku, Okayama 700-8530, Japan

• KUNIEDA Tetsuo

  Graduate School of Environmental and Life Science, Okayama University

• TSUJI Takehito

  Graduate School of Environmental and Life Science, Okayama University

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