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PMID: 11161838
Mailleau C, Paul A, Colin M, Xing PX, Guernier C, Bernaudin JF, Capeau J, Brahimi-Horn MC
Glycoconjugate metabolism in a cystic fibrosis knockout mouse model.
Mol Genet Metab. 2001 Feb;72(2):122-31.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
22
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11161838:22:84
status:
NEW
view ABCC7 p.Ser489* details
The cftr gene was inactivated by introduction of an in-frame stop codon (the allele
S489X
) resulting in a truncated gene product.
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34
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11161838:34:49
status:
NEW
view ABCC7 p.Ser489* details
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11161838:34:98
status:
NEW
view ABCC7 p.Ser489* details
Female and male 129/BC mice heterozygous for the
S489X
mutation were crossed to obtain homozygous
S489X
mice (12).
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42
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11161838:42:113
status:
NEW
view ABCC7 p.Ser489* details
ABCC7 p.Ser489*
X
ABCC7 p.Ser489* 11161838:42:181
status:
NEW
view ABCC7 p.Ser489* details
For the purposes of this study wild-type mice were classified as cftraf9;/af9; , mice heterozygous for the
S489X
mutation as cftraf9;/afa; , and mice homozygous for the
S489X
mutation as cftrafa;/afa; .
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