RGD Reference Report - Level of expression of the nonmutant Ferrochelatase allele is a determinant of biochemical phenotype in a mouse model of erythropoietic protoporphyria. - Rat Genome Database

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Level of expression of the nonmutant Ferrochelatase allele is a determinant of biochemical phenotype in a mouse model of erythropoietic protoporphyria.

Authors: Bloomer, Joseph  Wang, Yongming  Chen, Dongquan 
Citation: Bloomer J, etal., Gene Regul Syst Bio. 2008 May 29;2:233-41.
RGD ID: 14700889
Pubmed: PMID:19787086   (View Abstract at PubMed)
PMCID: PMC2733089   (View Article at PubMed Central)

Ferrochelatase (FECH) activity is decreased in erythropoietic protoporphyria (EPP), causing increased production and excretion of protoporphyrin. This study examined whether the level of expression of the nonmutant FECH allele is a determinant of phenotype in a mouse model of EPP that carries a heterozygous deletion of exon 10 in FECH. Two mice strains that had a two-fold difference in FECH mRNA levels in bone marrow and liver (low expressing C3H/HeJ and high expressing CBA/J) were used to establish congenic strains containing the mutation. Erythrocyte protoporphyrin levels in C3H/HeJ heterozygous mice were significantly higher than in their wildtype littermates, whereas levels in CBA/J heterozygous mice did not differ significantly from their wildtype littermates. Biliary excretion of protoporphyrin was also significantly higher in C3H/HeJ heterozygous mice. The levels of normal FECH mRNA in bone marrow measured by real time PCR were 138 +/- 30 copies per ug total RNA in C3H/HeJ +/- mice, 320 +/- 59 in C3H/HeJ +/+ mice and 634 +/- 38 in CBA/J +/+ mice. Levels in liver tissue of the mice differed significantly in the same pattern. Thus, the level of expression of the nonmutant FECH allele is a determinant of phenotype in a mouse model of EPP as has been demonstrated in human EPP.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
erythropoietic protoporphyria  ISOFech (Mus musculus)14700889; 14700889 RGD 
erythropoietic protoporphyria  IEP 14700889 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fech  (ferrochelatase)

Genes (Mus musculus)
Fech  (ferrochelatase)

Genes (Homo sapiens)
FECH  (ferrochelatase)


Additional Information