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.
| Original language | English |
|---|---|
| Pages (from-to) | 491-495 |
| Number of pages | 5 |
| Journal | Experimental Animals |
| Volume | 55 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Nov 8 2006 |
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Keywords
- Endothelin-B receptor
- Inverted repeat
- Waardenburg syndrome
ASJC Scopus subject areas
- Animal Science and Zoology
- veterinary(all)
Cite this
A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice. / Ohtani, Shin; Shinkai, Yusuke; Horibe, Akio; Katayama, Kentaro; Tsuji, Takehito; Matsushima, Yoshibumi; Tachibana, Masayoshi; Kunieda, Tetsuo.
In: Experimental Animals, Vol. 55, No. 5, 08.11.2006, p. 491-495.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A deletion in the endothelin-B receptor gene is responsible for the Waardenburg syndrome-like phenotypes of WS4 mice
AU - Ohtani, Shin
AU - Shinkai, Yusuke
AU - Horibe, Akio
AU - Katayama, Kentaro
AU - Tsuji, Takehito
AU - Matsushima, Yoshibumi
AU - Tachibana, Masayoshi
AU - Kunieda, Tetsuo
PY - 2006/11/8
Y1 - 2006/11/8
N2 - 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.
AB - 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.
KW - Endothelin-B receptor
KW - Inverted repeat
KW - Waardenburg syndrome
UR - http://www.scopus.com/inward/record.url?scp=33750981541&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33750981541&partnerID=8YFLogxK
U2 - 10.1538/expanim.55.491
DO - 10.1538/expanim.55.491
M3 - Article
VL - 55
SP - 491
EP - 495
JO - Experimental Animals
JF - Experimental Animals
SN - 1341-1357
IS - 5
ER -