"These data suggest there is no alternate system for copper uptake into cells that can compensate for loss of the plasma membrane Ctr1 transporter, and that the presence of at least one functional copy of the Ctr1 copper transporter gene is essential for normal embryonic development," Thiele says. "In addition, reduced copper accumulation in both brain and spleen from Ctr1 heterozygous mice indicates that two functional copies of Ctr1 are critical for maintaining normal copper balance."
Copper deprivation is particularly dangerous for children and infants, according to Thiele. Children born with a genetic condition called Menkes disease suffer irreversible damage, because copper remains trapped in their intestinal cells, where it is unavailable to the many copper-requiring enzymes in the body. Patients with Wilson disease develop cirrhosis and nerve degeneration due to their inability to distribute copper properly.
The U-M is offering non-exclusive licenses for use of Ctr1 knock-out mice as a commercial research tool and will provide mice without charge to academic researchers.