Codon 455 GAA encoding glutamic acid in exon 4 was changed to AAA encoding lysine (E455K) and a FRT site flanked neomycin selection cassette was inserted upstream of this mutation. Flp-mediated recombination removed the neomycin cassette. This mutation is equivalent to the human E455K mutation. (J:246352)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count