A p.S59A mutation (TCC to GCC) was created in exon 2, and a loxP site, the mouse Ace (angiotensin I converting enzyme (peptidyl-dipeptidase A) 1) promoter, the cre recombinase gene, a neomycin resistance gene cassette, and a second loxP site were inserted into intron 8 via homologous recombination. Cre-mediated self-excision in the male germline removed the cre+neo cassette. The mutation results in altered kinase activity. (J:217866)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count