International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 1 - INFLUENCE OF THE GENETIC BACKGROUND ON THE SEVERITY OF THE PHENOTYPE OF THE FERROCHELATASE DEFICIENCY (FECHM1PAS) MUTATION, A MOUSE MODEL FOR HUMAN ERYTHROPOIET PROOTPORPHYRIA

Ms Marie Abitbol
Institut Pasteur
25-28 rue du Docteur Roux
Paris 75724 France

Co-Authors:  2)Puy H, 3)Jouault H, 1)Guénet JL, 2)Deybach JC, 2)Nordmann Y, 1) Montagutelli X
Institutions: 1)Unité de Génétique des Mammiféres, 2)Centre Français des Porphyries, 3)Laboratoire d'Hématologie, Hôpital Henri Mondor

Influence of the genetic background on the severity of the phenotype of the ferrochelatase deficiency (Fechm1Pas) mutation, a mouse model for human erythropoietic protoporphyria.

The ferrochelatase deficiency mutation of the mouse, which arose in the BALB/cJ inbred strain after mutagenic treatment with ethylnitrosourea, is a good model for human erythropoietic protoporphyria. Mutant mice exhibit photo-sensibility, icterus, enlarged abdomen (due to hepato and splenomegaly) and anemia. While transferring the mutation into several inbred backgrounds it became rapidly obvious that the severity of the phenotype was strongly modified. We established a series of congenic strains by introducing the ferrochelatase deficiency mutation into C57BL/6J and SJL/J genetic backgrounds and analyzed the phenotype of mutant mice of various classes of age, to characterize the peculiarities associated to each strain. We observed clinical, hematological, biochemical and histological differences among the mice of the three congenic strains.

From this model of erythropoietic protoporphyria studied in three backgrounds we have developed three models of protoporphyria which allow better to reflect the variety of phenotypes observed in man.

We will now undertake a genetic study with the aim of identifying, by a QTL approach, the regions of the genome controlling these differences.


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