Journal Article

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 and Hiroshi Ikadai

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 3, issue 2, pages 101-105
Published in print January 1996 | ISSN: 1340-2838
Published online January 1996 | e-ISSN: 1756-1663 | DOI: http://dx.doi.org/10.1093/dnares/3.2.101

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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.

Keywords: aganglionosis; rat; endothelin-B receptor

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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