The targeting construct replaced exon 28 with one in which a point mutation results in the amino acid substitution of lysine with methionine at position 1431 (K1431M). AN FRT-flanked neomycin resistance cassette was inserted in intron 28. (J:321518)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count