title: Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
abstract: 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.
authors.affiliation: Scobie and Claire, Mackinnon Trace Element Group, Murdoch Institute, Parkville, Victoria, Australia.
authors.forename: J F
authors.initials: JF
authors.lastname: Mercer
authors.forename: A
authors.initials: A
authors.lastname: Grimes
authors.forename: L
authors.initials: L
authors.lastname: Ambrosini
authors.forename: P
authors.initials: P
authors.lastname: Lockhart
authors.forename: J A
authors.initials: JA
authors.lastname: Paynter
authors.forename: H
authors.initials: H
authors.lastname: Dierick
authors.forename: T W
authors.initials: TW
authors.lastname: Glover
mesh_terms: D000251:Adenosine Triphosphatases / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D004195:Disease Models, Animal; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000378:metabolism; D005786:Gene Expression Regulation; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000196:embryology / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains / Q000196:embryology / Q000235:genetics*; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D012333:RNA, Messenger / Q000235:genetics; D011993:Recombinant Fusion Proteins; D017386:Sequence Homology, Amino Acid
chemical_list: C486201:Atp7a protein, mouse; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases