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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1996-12-9
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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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1340-2838
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
30
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pubmed:volume |
3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
101-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8804863-Animals,
pubmed-meshheading:8804863-Base Sequence,
pubmed-meshheading:8804863-Codon, Terminator,
pubmed-meshheading:8804863-Hair,
pubmed-meshheading:8804863-Hirschsprung Disease,
pubmed-meshheading:8804863-Molecular Sequence Data,
pubmed-meshheading:8804863-Mutation,
pubmed-meshheading:8804863-Polymerase Chain Reaction,
pubmed-meshheading:8804863-RNA Splicing,
pubmed-meshheading:8804863-Rats,
pubmed-meshheading:8804863-Rats, Mutant Strains,
pubmed-meshheading:8804863-Receptor, Endothelin B,
pubmed-meshheading:8804863-Receptors, Endothelin,
pubmed-meshheading:8804863-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:8804863-Sequence Analysis, DNA,
pubmed-meshheading:8804863-Sequence Deletion,
pubmed-meshheading:8804863-Transcription, Genetic
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pubmed:year |
1996
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pubmed:articleTitle |
A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats.
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pubmed:affiliation |
Faculty of Agriculture, Okayama University, Japan. tkunieda@cc.okayama-u.ac.jp
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pubmed:publicationType |
Journal Article,
Comparative Study
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