Exon 2 was replaced with a modified exon in which a point mutation results in the amino acid substitution of arginine with alanine at position 103 (p.R103A) (or position 84 in the mature protein). Flp-mediated recombination removed the FRT site flanked neomycin resistance cassette inserted downstream of the modified exon 2. This variant lacks the ability to bind to protein C/activated protein C (PC/APC). Western blot analysis confirmed normal protein expression in heart, kidney, liver, lung, and spleen tissue lysates from homozygous mutant mice. (J:225914)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
--
1

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

References Literature

Title
PMID
Journal
Year
IF
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