Exons 11 and 12 were removed by germ-line, cre-mediated recombination. The absence of protein activity was confirmed by an alanyl-alanyl-phenylalanyl-7-amino-4-methylcoumarin-degradation assay on splenocyte lysates and the absence of protein product was confirmed by western blot analysis on peripheral blood cell extracts. (J:133572)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count