The targeting construct inserted a floxed neomycin resistance cassette into intro 4 and the point mutation CGG to CAG that produces the amino acid substitution arginine to glutamine at position 218 (R218Q). Cre-mediated recombination removed the selection cassette. (J:314968)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count