Article
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
Genes & development - 1 Dec 1993
Grompe M, al-Dhalimy M, Finegold M, Ou C N, Burlingame T, Kennaway N G, Soriano P
Abstract excerpt
Mice homozygous for the c14CoS albino deletion die as neonates as a result of liver dysfunction. Previous mapping studies have associated this defect with a 310-kb fragment encoding the hepatocyte-specific developmental regulation locus (alf/hsdr-1). The gene encoding fumarylacetoacetate hydrolas...
Topics
- Albinism
- Animals
- Animals, Newborn
- Base Sequence
- Cells, Cultured
- Endoplasmic Reticulum
- Gene Deletion
- Gene Expression
- Hydrolases
- Liver Diseases
- Mice
- Microscopy, Electron
- Molecular Sequence Data
- Phenotype
- RNA, Messenger
- Tyrosine