A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice

Shin Ohtani, Yusuke Shinkai, Akio Horibe, Kentaro Katayama, Takehito Tsuji, Yoshibumi Matsushima, Masayoshi Tachibana, Tetsuo Kunieda

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)491-495
Number of pages5
JournalExperimental Animals
Volume55
Issue number5
DOIs
Publication statusPublished - Nov 8 2006

Keywords

  • Endothelin-B receptor
  • Inverted repeat
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Biochemistry, Genetics and Molecular Biology(all)
  • veterinary(all)

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    Ohtani, S., Shinkai, Y., Horibe, A., Katayama, K., Tsuji, T., Matsushima, Y., Tachibana, M., & Kunieda, T. (2006). A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice. Experimental Animals, 55(5), 491-495. https://doi.org/10.1538/expanim.55.491