A rare autosomal recessive condition, congenital erythropoietic porphyria, found in the canefield rat Rattus sordidus Gould 1858

Abstract

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humans and in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in pink coloration and fluorescence of the tissues and urine under long-wave ultraviolet (UV) light. We observed red teeth in nine of 450 canefield rats (Rattus sordidus) captured in a small, isolated patch of sugarcane in Tully, north Queensland, Australia. The skeletons of these animals were excised and were found to be bright red under normal day light. Under UV light, the skeleton had a bright red fluorescence. It is plausible that the canefield rat population in this isolated patch of sugarcane is small and inbreeding might have occurred, resulting in incidences of the autosomal recessive genes that cause CEP. The canefield rat can be used as an animal model for research into porphyria.