Three alanine substitutions at Thr2605, Thr2634, and Thr2643 in exon 58 and a self-excising ACN cassette were inserted via homologous recombination. The ACN cassette was removed by cre mediated recombination in the male germline leaving a single loxP site in intron 58. Analysis of whole cell lysates of homozygous MEFs indicates protein expression is not significantly different from the wild-type allele. Kinase activity of the mutant allele is not significantly different from the wild-type allele. The 3 alanine substitutions are in a threonine phosphorylation cluster. (J:171351)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count