title: A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice.
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.
authors.affiliation: Graduate School of Natural Science and Technology, Okayama University, Okayama, Japan.
authors.forename: Shin
authors.initials: S
authors.lastname: Ohtani
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Shinkai
authors.forename: Akio
authors.initials: A
authors.lastname: Horibe
authors.forename: Kentaro
authors.initials: K
authors.lastname: Katayama
authors.forename: Takehito
authors.initials: T
authors.lastname: Tsuji
authors.forename: Yoshibumi
authors.initials: Y
authors.lastname: Matsushima
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Tachibana
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kunieda
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D017353:Gene Deletion; D055029:Inverted Repeat Sequences / Q000235:genetics; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D008817:Mice, Mutant Strains; D044023:Receptor, Endothelin B / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D044023:Receptor, Endothelin B