Article
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans.
Endocrinology - 1 Oct 1994
Gotoh H, Kusakabe M, Shiroishi T, Moriwaki K
Abstract excerpt
The genome of mice with the H-2aw18 haplotype has a deletion of approximately 80 kilobases in the H-2 class III region of chromosome 17. Mice that are homozygous for the mutation die soon after birth. A functional form of steroid 21-hydroxylase (21-OHase) is encoded by the deleted DNA fragment, a...
Topics
- Adrenal Cortex Hormones
- Adrenal Hyperplasia, Congenital
- Animals
- Animals, Newborn
- Base Sequence
- Blotting, Northern
- Chromosome Mapping
- DNA
- Disease Models, Animal
- Female
- Haplotypes
- Homozygote
- Humans
- Male
- Mice