Article
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Nature genetics - 1 Jun 1999
Liu X Y, Dangel A W, Kelley R I, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker P R, Mallon A M, Strivens M A, Bate R, Miller W, Rhodes M, Brown S D, Herman G E
Abstract excerpt
X-linked dominant disorders that are exclusively lethal prenatally in hemizygous males have been described in human and mouse. None of the genes responsible has been isolated in either species. The bare patches (Bpa) and striated (Str) mouse mutations were originally identified in female offspring of X-irradiated males. Subsequently, additional independent alleles were described. We have previously mapped these...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Alleles
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Crosses, Genetic
- Exons
- Eye Abnormalities
- Female
- Fibroblasts
