Threonine codon 694 (ACA) in exon 15 was changed to alanine (GCA) (p.T694A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 14. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation prevents phosphorylation of the residue. (J:329587)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count