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Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and phenotype, are caused by mutations in  Atp7a , the mouse homologue of ATP7A. As the only causal mutation in  Atp7a  has been reported in one very mild allele thought to be a model for OHS,  Atp7a  Mo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD ( Atpa   Mo-br  ,  Atpa   Mo-13H  ) and one with a slightly milder phenotype  (Atp7a   Mo-vbr  ). Although no causal mutation was found in  Atp7a   Mo-13H  , mutations which can be predicted to affect  Atp7a  function were identified in  Atp7a   Mo-br   and  Atp7a   Mo-vbr  . A 6 bp deletion of nucleotides 2478–2483, which can be predicted to affect the correct processing of the protein, was found in  Atp7a   Mo-br   and an A 3189 →C nucleotide change, which results in lysine→threonine amino acid substitution in the phosphorylation domain, was found in  Atp7a   Mo-vbr  . Thus we provide further proof that mottled mutants will provide excellent models for MD as well as OHS.

Mutation Analysis Provides Additional Proof That Mottled is the Mouse Homologue of Menkes' Disease