The mouse coding region was replaced with the double mutation (C17A and G241A) human variant sequence, a TAG epitope and floxed neomycin resistace cassette. Cre-mediated recombination removed the selection cassette. (J:236064)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count