Lysine codon 747 (AAG) in exon 19 was changed to methionine (ATG) (p.K747M) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 18. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation renders the encoded peptide kinase-dead. (J:343982)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count