Glutamic acid codon 359 (GAA) in exon 11 was changed to lysine (AAA) (p.E359K) and a loxP site flanked neomycin resistance gene cassette was inserted into the 3' UTR in exon 13. The neo cassette was removed through subsequent Cre-mediated recombination. This mutation negatively affects the stability of the encoded peptide. (J:304821)
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