A Mutation in Endothelin-B Receptor Gene Causes Myenteric Aganglionosis and Coat Color Spotting in Rats

Tetsuo Kunieda, Taeko Kumagai, Takehito Tsuji, Tsuyoshi Ozaki, Hideaki Karaki, Hiroshi Ikadai

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28 Citations (Scopus)

Abstract

Congenital aganglionosis rat (AR) is a mutant with an autosomal recessive gene (sl), which shows megacolon caused by the absence of myenteric ganglion cells and white coat-color with a small pigmented spot on the head. Recently, targeted disruption of the endothelin-B (ETB) receptor gene (EDNRB) in the mouse has been reported to cause aganglionic megacolon and coat color spotting resembling the phenotypes of the sl/sl rats. To identify the mutation responsible for the phenotypes of the sl/sl rats, we determined the nucleotide sequences of the EDNRB genes of the sl/sl rats and found that a 301-bp region intervening between direct repeat sequences was deleted in the EDNRB gene, and the deletion produces various transcripts due to aberrant splicing.

Original languageEnglish
Pages (from-to)101-105
Number of pages5
JournalDNA Research
Volume3
Issue number2
Publication statusPublished - 1996

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Keywords

  • Aganglionosis
  • Endothelin-B receptor
  • Rat

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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