The targeting construct introduced the mutation that results in the amino acid substitution of methionine with alanine at position 486 (M486A). This mutation produces an ATP analog-sensitive (AS) protein. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of the modified exon 11. (J:318798)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count