Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1996-12-9
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1340-2838
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
101-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.
pubmed:affiliation
Faculty of Agriculture, Okayama University, Japan. tkunieda@cc.okayama-u.ac.jp
pubmed:publicationType
Journal Article, Comparative Study