A point mutation was inserted into exon 5 such that codon 114 is altered from arginine to glutamine. An frt-flanked neomycin selection cassette was removed via Flp-mediated recombination. This mutation renders the encoded protein to be resistant to cleavage by thrombin. (J:283624)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count