The targeting construct introduced a mutation that results in the amino acid substitution of histidine for arginine at position 1648 (R1648H) and two additional silent substitutions in exon 26. Flp-mediated recombination removed the neomycin resistance cassette. (J:228931)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count