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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count