A dinucleotide substitution was introduced at codon 588 (exon 14), converting the lysine codon to an arginine codon (K588R). While protein was detected at wild-type levels in homozygous mutant mice, the absence of lysine 588, a conserved residue of the kinase subdomain II, resulted in an ablation of catalytic activity. The targeting construct also included neo and tk selection genes in the 3' untranslated region. (J:84535)
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