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EN
A point mutation was introduced which altered the codon corresponding to amino acid 532 from arginine to glutamine (p.R532Q or p.R504Q in reference to mature protein with signal peptide removed). The loxP site flanked neomycin resistance gene cassette inserted into intron 10 was removed by subsequent Cre-mediated recombination. This mutation is the equivalent of the human p.R506Q Factor 5 Leiden mutation (or UNIPROT:P12259:p.R534Q for peptide including signal peptide). (J:66260)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
