ERYTHROPOIETIC PROTOPORPHYRIA IN THE HOUSE MOUSE - A RECESSIVE INHERITED FERROCHELATASE DEFICIENCY WITH ANEMIA, PHOTOSENSITIVITY, AND LIVER-DISEASE

作者：TUTOIS S^*; MONTAGUTELLI X; DASILVA V; JOUAULT H; ROUYERFESSARD P; LEROYVIARD K; GUENET JL; NORDMANN Y; BEUZARD Y; DEYBACH JC

来源：Journal of Clinical Investigation, 1991, 88(5): 1730-1736.

DOI：10.1172/JCI115491

• GENETIC DISEASE
• PROTOPORPHYRIN
• MUTAGENESIS
• ETHYLNITROSOUREA
• ANIMAL MODEL

A viable autosomal recessive mutation (named fch, or ferrochelatase deficiency) causing jaundice and anemia in mice arose in a mutagenesis experiment using ethylnitrosourea. Homozygotes (fch/fch) display a hemolytic anemia, photosensitivity, cholestasis, and severe hepatic dysfunction. Protoporphyrin is found at high concentration in erythrocytes, serum, and liver. Ferrochelatase activity in various tissues is 2.7-6.3% of normal. Heterozygotes (+/fch) are not anemic and have normal liver function; they are not sensitive to light exposure; ferrochelatase activity is 45-65% of normal. Southern blot analysis using a ferrochelatase cDNA probe reveals no gross deletion of the ferrochelatase gene. This is the first spontaneous form of erythropoietic protoporphyria in the house mouse. Despite the presence in the mouse of clinical and biochemical features unfrequent in the human, this mutation may represent a model for the human disease, especially in its severe form.

• 出版日期1991-11