This allele represents two point mutations that are found in the PWD and PWK strains: chrX:g.68762025C>G (minor variant of SNP rs29049709; changes codon 31 from threonine to arginine (p.T31R)) and 68769064T>A (minor variant of SNP rs29049158; changes codon 162 from isoleucine to lysine (p.I162K)) (GRCm38 coordinates). (J:292550)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count