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A mutated exon 14 with a TGT to TCC mutation resulting in a Cys674Ser substitution and an FRT flanked neo cassette in intron 14 were inserted via homologous recombination. Flp mediated recombination removed the neo cassette. This mutation removes half of the key thiol that is a target of ischemia induced S-glutathiolation. The presence of the C674S allele was confirmed by sequencing of both genomic DNA and cDNA from cardiac endothelial cells. (J:216004)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
