An arginine to histidine substitution was generated at codon 172 (p.R172H, equivalent to p.R175H in humans) by insertion of a targeting construct containing a loxP site flanked neomycin resistance gene cassette and an G-to-A mutation at coding nucleotide 515. Retention of the floxed selection cassette results in inactivation. (J:95318, J:124222)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count