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The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardiovascular- and skeletal systems, and is caused by mutations in the ATP7A copper transporter. Certain  ATP7A  mutations also cause X-linked Spinal Muscular Atrophy type 3 (SMAX3), which is characterized by neuromuscular defects absent an underlying systemic copper deficiency. While an understanding of these  ATP7A -related disorders would clearly benefit from an animal model that permits tissue-specific deletion of the  ATP7A  gene, no such model currently exists. In this study, we generated a floxed mouse model allowing the conditional deletion of the  Atp7a  gene using Cre recombinase. Global deletion of  Atp7a  resulted in morphological and vascular defects in hemizygous male embryos and death  in utero . Heterozygous deletion in females resulted in a 50% reduction in live births and a high postnatal lethality. These studies demonstrate the essential role of the  Atp7a  gene in mouse embryonic development and establish a powerful model for understanding the tissue-specific roles of  ATP7A  in copper metabolism and disease.

Conditional Knockout of the Menkes Disease Copper Transporter Demonstrates Its Critical Role in Embryogenesis