We have identified the gene responsible for the inherited zinc deficiency in the lethal milk (lm) mouse. The gene, here designated Znt4, encodes a 430-amino-acid protein that is homologous to two proteins, ZnT2 and ZnT3, responsible for sequestration of zinc into endosomal/lysosomal compartments and synaptic vesicles, respectively. We show that the Znt4 gene confers zinc resistance to a zinc-sensitive yeast strain and that it is abundantly expressed in the mammary epithelia and brain. The lethal milk mutant has a nonsense mutation at arginine codon 297 in the Znt4 gene.

A novel gene involved in zinc transport is deficient in the lethal milk mouse

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.

Acrodermatitis enteropathica and an overview of zinc metabolism

R E Ganschow

Papers

Lethal milk mutation results in dietary zinc deficiency in nursing mice.

Is acrodermatitis enteropathica related to the absence of zinc binding ligand in bovine milk