Amelioration by Copper Supplementation of Mutant Gene Effects in the Crinkled Mouse

The study investigated the relationship between the crinkled mutant gene in mice and copper metabolism, finding that copper supplementation during pregnancy and lactation significantly improved outcomes for homozygous mutant offspring. Specifically, a high copper diet (500 ppm) for mothers doubled the survival rate of mutant mice to 30 days, prevented delays in pigment development, and normalized skin, epidermal thickness, and hair bulb development compared to controls with lower copper intake (6-11 ppm). Manganese supplementation did not yield similar benefits. The study highlighted three hair abnormalities in crinkled mutants: monilethrix, pili torti, and possibly trichorrhexis nodosa. These findings demonstrated that increased copper availability positively influenced the expression of the mutant gene, illustrating the interaction between a gene and a trace metal in development.