A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats

DNA Res. 1996 Apr 30;3(2):101-5. doi: 10.1093/dnares/3.2.101.


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.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • Base Sequence
  • Codon, Terminator
  • Hair / abnormalities*
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / pathology
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • RNA Splicing
  • Rats
  • Rats, Mutant Strains
  • Receptor, Endothelin B
  • Receptors, Endothelin / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Analysis, DNA
  • Sequence Deletion
  • Transcription, Genetic


  • Codon, Terminator
  • Receptor, Endothelin B
  • Receptors, Endothelin