The 917 codon (according to NP_001074747.2, and equivalent to Arg973 on human AS160) was mutated to express a lysine residue instead of arginine in order to inactivate the GAP function of the encoded protein. A loxP-flanked neomycin selection cassette that was placed next to the mutated exon was removed in the final allele. (J:246944)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count