title: A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.
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.
authors.affiliation: Faculty of Agriculture, Okayama University, Japan. tkunieda@cc.okayama-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Kunieda
authors.forename: T
authors.initials: T
authors.lastname: Kumagai
authors.forename: T
authors.initials: T
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Ozaki
authors.forename: H
authors.initials: H
authors.lastname: Karaki
authors.forename: H
authors.initials: H
authors.lastname: Ikadai
mesh_terms: D000818:Animals; D001483:Base Sequence; D018388:Codon, Terminator; D006197:Hair / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D051381:Rats; D011922:Rats, Mutant Strains; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014158:Transcription, Genetic
chemical_list: D018388:Codon, Terminator; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin