Article
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen.
Disease models & mechanisms - 1 Aug 2017
Conway Ashlee J, Brown Fiona C, Fullinfaw Robert O, Kile Benjamin T, Jane Stephen M, Curtis David J
Abstract excerpt
A genome-wide ethyl-N-nitrosourea (ENU) mutagenesis screen in mice was performed to identify novel regulators of erythropoiesis. Here, we describe a mouse line, RBC16, which harbours a dominantly inherited mutation in the Cpox gene, responsible for production of the haem biosynthesis enzyme, coproporphyrinogen III oxidase (CPOX). A premature stop codon in place of a tryptophan at amino acid 373 results in reduced...
Topics
- Anemia, Hypochromic
- Animals
- Base Sequence
- Biosynthetic Pathways
- Coproporphyria, Hereditary
- Coproporphyrinogen Oxidase
- Disease Models, Animal
- Ethylnitrosourea
- Fasting
- Feces
- Female
- Heme
- Male
- Mice, Mutant Strains