Article
Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice.
Endocrinology - 1 Jun 2005
Riepe Felix G, Tatzel Stephan, Sippell Wolfgang G, Pleiss Jürgen, Krone Nils
Abstract excerpt
The mouse strain H-2(aw18) shows typical characteristics of 21-hydroxylase deficiency (21-OHD). A deletion of the active Cyp21a1 gene has been postulated; however, the changes on the nucleotide level are still unknown. To investigate whether this animal model, the only one available, is suitable for studying congenital adrenal hyperplasia in man, a detailed analysis of the Cyp21 locus has been performed to...
Topics
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Southern
- Codon, Nonsense
- Crossing Over, Genetic
- Disease Models, Animal
- Gene Expression Regulation, Developmental
- Gene Expression Regulation, Enzymologic