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Glutamine codons 423 and 424 (CAG) in exon 9 were changed to asparagine (p.Q423N, p.Q424N), lysine codon 431 (AAA) to arginine (p.K431R) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 8. The neo cassette was removed through subsequent Cre-mediated recombination. The mutations eliminate the gamma-chain cross-linking sites and recapitulate the same experimentally created mutations in the human ortholog (p.Q398N p.Q399N, p.K406R in the mature peptide) that affect blood clot formation. (J:307658)
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
