Patients with congenital adrenal hyperplasia arising from mutations of 11β-hydroxylase, the
final enzyme in the glucocorticoid biosynthetic pathway, exhibit glucocorticoid deficiency,
adrenal hyperplasia driven by unsuppressed hypothalamo-pituitary-adrenal activity, and
excess mineralocorticoid activity caused by the accumulation of deoxycorticosterone. A
mouse model, in which exons 3-7 of Cyp11b1 (the gene encoding 11β-hydroxylase) were
replaced with cDNA encoding enhanced cyan fluorescent protein, was generated to …