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A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen
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A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen
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Journal Article
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen
2017
Overview
A genome-wide 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 mRNA expression and diminished protein levels, yielding a microcytic red cell phenotype in heterozygous mice. Urinary and faecal porphyrins in female RBC16 heterozygotes were significantly elevated compared to that of wildtype littermates, particularly coproporphyrinogen III, while males were biochemically normal. Attempts to induce acute porphyric crises were made using fasting and phenobarbital treatment on females. While fasting had no biochemical effect on RBC16 mice, phenobarbital caused significant elevation of faecal coproporphyrinogen III in heterozygous mice. This is the first known investigation of a mutagenesis mouse model with genetic and biochemical parallels to hereditary coproporphyria.
Publisher
The Company of Biologists Ltd,The Company of Biologists
Subject
/ Anemia
/ Anemia, Hypochromic - genetics
/ Animals
/ Biosynthetic Pathways - genetics
/ Blood
/ Coproporphyria, Hereditary - blood
/ Coproporphyria, Hereditary - genetics
/ Coproporphyrinogen Oxidase - genetics
/ CPOX
/ Embryos
/ Enzymes
/ Ethylnitrosourea - chemistry
/ Fasting
/ Female
/ Females
/ Genomes
/ Liver
/ Male
/ Mutation
/ Phenobarbital - pharmacology
/ Proteins
/ Spleen
/ Urine
