Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

Nat Genet. 1994 Apr;6(4):374-8. doi: 10.1038/ng0494-374.


The murine homologue of the Menkes disease gene (MNK) was isolated from cDNA libraries, using human cDNA clones as probes, and by PCR. The predicted amino acid sequence shows a high level of identity (89.9%) with the human protein, and the predicted functional domains in the human protein are present. Using probes to the mouse Mnk gene, we found that the mottled dappled mutation was caused by alteration in the Mnk locus and lack of expression of Mnk RNA. Tissues of the blotchy mouse contained two larger sizes of MNK mRNA demonstrating a likely defect in RNA splicing. Thus, the mottled locus is homologous to the human MNK locus and dappled and blotchy are allelic mutations in this gene.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / biosynthesis
  • Adenosine Triphosphatases / chemistry
  • Adenosine Triphosphatases / genetics*
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Carrier Proteins / biosynthesis
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper-Transporting ATPases
  • Disease Models, Animal*
  • Female
  • Fetal Diseases / genetics
  • Fetal Diseases / metabolism
  • Gene Expression Regulation
  • Hair Color / genetics*
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / embryology
  • Menkes Kinky Hair Syndrome / genetics*
  • Menkes Kinky Hair Syndrome / metabolism
  • Mice
  • Mice, Mutant Strains / embryology
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • Protein Structure, Tertiary
  • RNA, Messenger / genetics
  • Recombinant Fusion Proteins*
  • Sequence Homology, Amino Acid


  • Atp7a protein, mouse
  • Carrier Proteins
  • Cation Transport Proteins
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases

Associated data

  • GENBANK/U03736