Gene Symbol: Atp7a
Description: ATPase, Cu++ transporting, alpha polypeptide
Alias: MNK, copper-transporting ATPase 1, Menkes protein, copper pump 1, menkes disease-associated protein homolog
Species: mouse
Products:     Atp7a

Top Publications

  1. Qin Z, Konaniah E, Neltner B, Nemenoff R, Hui D, Weintraub N. Participation of ATP7A in macrophage mediated oxidation of LDL. J Lipid Res. 2010;51:1471-7 pubmed publisher
    b>ATP7A primarily functions to egress copper from cells, thereby supplying this cofactor to secreted copper-accepting enzymes...
  2. White C, Kambe T, Fulcher Y, Sachdev S, Bush A, Fritsche K, et al. Copper transport into the secretory pathway is regulated by oxygen in macrophages. J Cell Sci. 2009;122:1315-21 pubmed publisher
    ..This resulted in increased copper delivery to the ATP7A copper transporter and copper-dependent trafficking of ATP7A to cytoplasmic vesicles...
  3. Levinson B, Packman S, Gitschier J. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse. Nat Genet. 1997;16:224-5 pubmed
  4. Lenartowicz M, Grzmil P, Shoukier M, Starzyński R, Marciniak M, Lipiński P. Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease. Metallomics. 2012;4:197-204 pubmed publisher
    Copper is an essential micronutrient for all living organisms. ATP7A protein is a copper-transporting ATPase which plays a vital role in the maintenance of cellular copper homeostasis in mammals...
  5. Lenartowicz M, Sasuła K, Zawadowska B. Alterations in kidney morphology in mice with mosaic mutation. Folia Histochem Cytobiol. 2001;39:275-81 pubmed
    The mosaic (Atp7a(mo-ms)) is an X-linked, lethal mutation in mice. Hemizygous males die at the age of 15 days and they exhibit strong similarities to the brindled and macular mutants...
  6. Qin Z, Gongora M, Ozumi K, Itoh S, Akram K, Ushio Fukai M, et al. Role of Menkes ATPase in angiotensin II-induced hypertension: a key modulator for extracellular superoxide dismutase function. Hypertension. 2008;52:945-51 pubmed publisher
    ..The present study was designed to determine the role of the copper transporter Menkes ATPase (MNK) in Ang II-induced SOD3 activity and hypertension in vivo...
  7. Hunt D. Primary defect in copper transport underlies mottled mutants in the mouse. Nature. 1974;249:852-4 pubmed
  8. Mercer J, Grimes A, Ambrosini L, Lockhart P, Paynter J, Dierick H, et al. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat Genet. 1994;6:374-8 pubmed
    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. Schlief M, Craig A, Gitlin J. NMDA receptor activation mediates copper homeostasis in hippocampal neurons. J Neurosci. 2005;25:239-46 pubmed

More Information


  1. Reed V, Boyd Y. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum Mol Genet. 1997;6:417-23 pubmed
    ..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 ..
  2. Mercer J. Menkes syndrome and animal models. Am J Clin Nutr. 1998;67:1022S-1028S pubmed publisher
    ..The gene spans approximately 140 kilobases, contains 23 exons, and encodes a copper-transporting ATPase termed MNK that is thought to be involved in copper efflux from cells...
  3. Linz R, Barnes N, Zimnicka A, Kaplan J, Eipper B, Lutsenko S. Intracellular targeting of copper-transporting ATPase ATP7A in a normal and Atp7b-/- kidney. Am J Physiol Renal Physiol. 2008;294:F53-61 pubmed
    ..We demonstrate that two copper-transporting ATPases, ATP7A and ATP7B, contribute to this regulation...
  4. Xu G, Yamano T, Shimada M. Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease. Biol Neonate. 1994;66:302-10 pubmed
    ..The others showed no copper deposit in both the placenta and liver, thus indicating that the former were hemizygous for the mutation and the latter were normal littermates.(ABSTRACT TRUNCATED AT 250 WORDS)..
  5. Kowal M, Lenartowicz M, Pecio A, Gołas A, Błaszkiewicz T, Styrna J. Copper metabolism disorders affect testes structure and gamete quality in male mice. Syst Biol Reprod Med. 2010;56:431-44 pubmed publisher
    ..Mice with an X-linked mosaic mutation (Atp7a(mo-ms)) exhibit pathological features characteristic of affected copper metabolism...
  6. Lenartowicz M, Starzyński R, Wieczerzak K, Krzeptowski W, Lipiński P, Styrna J. Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a mo-ms) - An animal model for Menkes disease. Gene Expr Patterns. 2011;11:41-7 pubmed publisher
    ..In mammals, the ATP7A Cu-transporting ATPase is a key protein that is required for the maintenance of copper homeostasis...
  7. Donsante A, Yi L, Zerfas P, Brinster L, Sullivan P, Goldstein D, et al. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther. 2011;19:2114-23 pubmed publisher a lethal infantile neurodegenerative disorder of copper metabolism caused by mutations in a P-type ATPase, ATP7A. Currently available treatment (daily subcutaneous copper injections) is not entirely effective in the majority of ..
  8. Iwase T, Nishimura M, Sugimura H, Igarashi H, Ozawa F, Shinmura K, et al. Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice. Acta Neuropathol. 1996;91:482-8 pubmed
    Menkes gene (Mc1 or MNK, encoding putative copper-transporting ATPase) expression was investigated and compared in normal and macular mutant mouse brain. Northern blot analysis showed a distinct 8...
  9. Camakaris J, Mann J, Danks D. Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J. 1979;180:597-604 pubmed
    ..All the findings are in accord with a hypothesis that the basic defect involves accumulation and retention of copper in the cells of affected tissues such as kidney, gut mucosa and placenta. ..
  10. Ashino T, Sudhahar V, Urao N, Oshikawa J, Chen G, Wang H, et al. Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration. Circ Res. 2010;107:787-99 pubmed publisher
    ..copper is regulated not only by the copper importer CTR1 (copper transporter 1) but also by the copper exporter ATP7A (Menkes ATPase), whose function is achieved through copper-dependent translocation from trans-Golgi network (TGN)...
  11. Mann J, Camakaris J, Danks D. Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. Biochem J. 1979;180:613-9 pubmed
    ..This could not be explained by initial copper deficiency. The livers of suckling mutant and heterozygote mice lost radioisotope rapidly after normal initial uptake. This pattern was not seen in adult mutants. ..
  12. El Meskini R, Crabtree K, Cline L, Mains R, Eipper B, Ronnett G. ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis. Mol Cell Neurosci. 2007;34:409-21 pubmed
    Menkes disease (MD) is a neurodegenerative disorder caused by mutations in the copper transporter, ATP7A, a P-type ATPase...
  13. Gulec S, Collins J. Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). PLoS ONE. 2013;8:e66010 pubmed publisher
    ..that enterocyte and hepatic copper levels increase and a copper transporter (the Menkes Copper ATPase; Atp7a) is induced in the duodenal epithelium in parallel to iron transport-related genes (e.g. Dmt1, Dcytb, Fpn1)...
  14. White C, Lee J, Kambe T, Fritsche K, Petris M. A role for the ATP7A copper-transporting ATPase in macrophage bactericidal activity. J Biol Chem. 2009;284:33949-56 pubmed publisher
    ..This was accompanied by copper-stimulated trafficking of the ATP7A copper exporter from the Golgi to vesicles that partially overlapped with phagosomal compartments...
  15. Mann J, Camakaris J, Danks D, Walliczek E. Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice. Biochem J. 1979;180:605-12 pubmed
    ..Cu+ may have resulted in an improved growth response owing to it being more readily metabolized than C12+. Delayed release of copper from the site of injection may have played an important role. ..
  16. Qin Z, Itoh S, Jeney V, Ushio Fukai M, Fukai T. Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress. FASEB J. 2006;20:334-6 pubmed
    ..Little is known about the mechanisms by which SOD3 obtains its catalytic copper cofactor. Menkes ATPase (MNK) has been shown to transport cytosolic copper to the secretory pathway in nonvascular cells...
  17. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993;3:7-13 pubmed
    ..The gene is transcribed in all cell types tested except liver, consistent with the expression of the Menkes defect. ..
  18. Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961;190:372-3 pubmed
  19. Suzuki Kurasaki M, Okabe M, Kurasaki M. Copper-metallothionein in the kidney of macular mice: a model for Menkes disease. J Histochem Cytochem. 1997;45:1493-501 pubmed
    ..We also compared the histochemical localization of Cu-MT in Macular mice and Long-Evans cinnamon rats, a model for Wilson's disease. The significance of this comparison is discussed...
  20. Mototani Y, Miyoshi I, Okamura T, Moriya T, Meng Y, Yuan Pei X, et al. Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. Genomics. 2006;87:191-9 pubmed
    Mottled Tohoku (Atp7a(Mo-Tohm) or Mo(Tohm)) is an X-linked mutation with mottled pigmentation in heterozygous (Mo(Tohm)/+) females and is embryonic lethal at E11 in hemizygous (Mo(Tohm)/Y) males...
  21. Kim B, Petris M. Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein. J Med Genet. 2007;44:641-6 pubmed
    Owing to mutations in the copper-transporting P-type ATPase, ATP7A (or MNK), patients with Menkes disease (MD) have an inadequate supply of copper to various copper-dependent enzymes...
  22. Grimes A, Hearn C, Lockhart P, Newgreen D, Mercer J. Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum Mol Genet. 1997;6:1037-42 pubmed
    ..Menkes disease has been shown to be due to mutations of the gene ATP7A which encodes P-type ATPase (referred to here as MNK)...
  23. Yoshimura N. Histochemical localization of copper in various organs of brindled mice. Pathol Int. 1994;44:14-9 pubmed
    ..Similarly, high tissue-copper concentrations of the kidney and intestine are attributed to excessive deposition of copper in their epithelial cells which are probably due to impaired intracellular copper-transportation. ..
  24. Koyama M, Ishida T, Horiike K, Nozaki M, Shimada M. Urate oxidase activity and copper content in the liver of macular mutant mouse, a model animal for human congenital copper deficiency, Menkes' kinky hair disease. J Nutr Sci Vitaminol (Tokyo). 1991;37:601-9 pubmed
    ..Copper administration increased the copper content in the liver to the normal level, but did not affect the oxidase activity. ..
  25. Seagroves T, Hadsell D, McManaman J, Palmer C, Liao D, McNulty W, et al. HIF1alpha is a critical regulator of secretory differentiation and activation, but not vascular expansion, in the mouse mammary gland. Development. 2003;130:1713-24 pubmed
    ..Transplantation experiments confirmed that these developmental defects were mammary epithelial cell autonomous. These data make clear that HIF1alpha plays a critical role in the differentiation and function of the mammary epithelium. ..
  26. Levinson B, Gitschier J, Vulpe C, Whitney S, Yang S, Packman S. Are X-linked cutis laxa and Menkes disease allelic?. Nat Genet. 1993;3:6 pubmed
  27. Gacheru S, McGee C, Uriu Hare J, Kosonen T, Packman S, Tinker D, et al. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys. 1993;301:325-9 pubmed
    ..Based on the present studies in cell culture, the production of essential enzymes and matrix proteins, such as lysyl oxidase and elastin, appear to be altered at the level of transcription or mRNA turnover. ..
  28. Schofield A, Martin P, Spillett D, Tanner M. The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene. Blood. 1994;84:2000-12 pubmed
    ..The translation initiator downstream to the human kidney promoter would give rise to a protein with a 20 amino acid section at the N-terminus that is not present in the erythroid human AE1 protein or the rodent kidney AE1 proteins. ..
  29. Wadwa J, Chu Y, Nguyen N, Henson T, Figueroa A, Llanos R, et al. Effects of ATP7A overexpression in mice on copper transport and metabolism in lactation and gestation. Physiol Rep. 2014;2:e00195 pubmed publisher
    Placentae and mammary epithelial cells are unusual in robustly expressing two copper "pumps", ATP7A and B, raising the question of their individual roles in these tissues in pregnancy and lactation...
  30. Kim H, Chan Q, Afton S, Caruso J, Lai B, Weintraub N, et al. Human macrophage ATP7A is localized in the trans-Golgi apparatus, controls intracellular copper levels, and mediates macrophage responses to dermal wounds. Inflammation. 2012;35:167-75 pubmed publisher
    The copper transporter ATP7A has attracted significant attention since the discovery of its gene mutation leading to human Menkes disease...
  31. Lyon M, Hawkes S. X-linked gene for testicular feminization in the mouse. Nature. 1970;227:1217-9 pubmed
  32. Sudhahar V, Urao N, Oshikawa J, McKinney R, Llanos R, Mercer J, et al. Copper transporter ATP7A protects against endothelial dysfunction in type 1 diabetic mice by regulating extracellular superoxide dismutase. Diabetes. 2013;62:3839-50 pubmed publisher
    ..superoxide dismutase (SOD3) is one of the key antioxidant enzymes that obtains copper via copper transporter ATP7A. SOD3 is secreted from vascular smooth muscles cells (VSMCs) and anchors at the endothelial surface...
  33. Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005;280:9640-5 pubmed
    ..The copper-transporting ATPases ATP7A and ATP7B play a central role in distribution of copper in the central nervous system; genetic mutations in ATP7A ..
  34. Mercer J, Livingston J, Hall B, Paynter J, Begy C, Chandrasekharappa S, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet. 1993;3:20-5 pubmed
    ..Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs which have been found in heavy metal resistance genes in bacteria. This gene is a strong candidate for the Menkes disease gene...
  35. Brophy C, Tilson J, Braverman I, Tilson M. Age of onset, pattern of distribution, and histology of aneurysm development in a genetically predisposed mouse model. J Vasc Surg. 1988;8:45-8 pubmed
    ..These animals provide a practical model for further studies of aneurysmal disease, including possible therapeutic interventions to prevent aneurysm development. ..
  36. La Fontaine S, Firth S, Lockhart P, Brooks H, Camakaris J, Mercer J. Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants. Hum Mol Genet. 1999;8:1069-75 pubmed
    Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene...
  37. Monty J, Llanos R, Mercer J, Kramer D. Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice. J Nutr. 2005;135:2762-6 pubmed
    ..These proteins, ATP7A and ATP7B, are encoded by the genes affected in human genetic copper-transport disorders, namely, Menkes and ..
  38. Lenartowicz M, Starzyński R, Krzeptowski W, Grzmil P, Bednarz A, Ogórek M, et al. Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. PLoS ONE. 2014;9:e107641 pubmed publisher
    ..metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter...
  39. Hunt D, Johnson D. Aromatic amino acid metabolism in brindled (Mobr) and viable-brindled (Movbr), two alleles at the mottled locus in the mouse. Biochem Genet. 1972;6:31-40 pubmed
  40. Rossi L, De Martino A, Marchese E, Piccirilli S, Rotilio G, Ciriolo M. Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. Neuroscience. 2001;103:181-8 pubmed
    ..On the basis of these findings, we propose that down-regulation of Bcl-2 can cause neurodegeneration triggered by mitochondrial damage due to copper depletion during brain development in Mo(br/y) mice. ..
  41. Lusis A, West J. X-linked and autosomal genes controlling mouse alpha-galactosidase expression. Genetics. 1978;88:327-42 pubmed
    ..Among certain recombinant inbred lines, the variation appears to segregate as a single major locus. ..
  42. Hunt D, Clarke R. Metallothionein and the development of the mottled disorder in the mouse. Biochem Genet. 1983;21:1175-94 pubmed
    ..The elevated kidney MT levels arise therefore in young mutant mice from an increased rate of synthesis and in adult mice from the combined effects of increased synthesis and reduced degradation. ..
  43. Moursi M, Beebe H, Messina L, Welling T, Stanley J. Inhibition of aortic aneurysm development in blotchy mice by beta adrenergic blockade independent of altered lysyl oxidase activity. J Vasc Surg. 1995;21:792-9; discussion 799-800 pubmed
    ..beta-Blockade inhibits development of aortic aneurysms in blotchy mice. This is associated with a reduction in heart rate, but not by alterations in LO activity. ..
  44. Chen G, Sudhahar V, Youn S, Das A, Cho J, Kamiya T, et al. Copper Transport Protein Antioxidant-1 Promotes Inflammatory Neovascularization via Chaperone and Transcription Factor Function. Sci Rep. 2015;5:14780 pubmed publisher
    ..Atox1-depleted ECs demonstrate that Cu chaperone function of Atox1 mediated through Cu transporter ATP7A is required for VEGF-induced angiogenesis via activation of Cu enzyme lysyl oxidase...
  45. Gajewska A, Gajkowska B, Pajak B, Styrna J, Kochman K. Impaired growth hormone-releasing hormone neurons ultrastructure and peptide accumulation in the arcuate nucleus of mosaic mice with altered copper metabolism. Brain Res Bull. 2009;80:128-32 pubmed publisher body weight and retarded linear growth observed in mosaic male mice with the mutation linked to X-chromosome (Atp7a(mo-ms)) raised the question whether hypophysiotropic growth axis activity may be affected in these animals...
  46. Simmler M, Cattanach B, Rasberry C, Rougeulle C, Avner P. Mapping the murine Xce locus with (CA)n repeats. Mamm Genome. 1993;4:523-30 pubmed
    ..Alternative explanations for this finding are presented in the context of our search for understanding the relation between Xist and Xce. ..
  47. Hamza I, Faisst A, Prohaska J, Chen J, Gruss P, Gitlin J. The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis. Proc Natl Acad Sci U S A. 2001;98:6848-52 pubmed
  48. Cunliffe P, Reed V, Boyd Y. Intragenic deletions at Atp7a in mouse models for Menkes disease. Genomics. 2001;74:155-62 pubmed
    Mottled mice have mutations in the copper-transporting ATPase Atp7a. They are proven models for the human disorder Menkes disease (MD), which results from mutations in a homologous gene...
  49. Fisk D, Kuhn C. Emphysema-like changes in the lungs of the blotchy mouse. Am Rev Respir Dis. 1976;113:787-97 pubmed
    ..The Blotchy strain may be a useful model in which to investigate how abnormalities of connective tissue proteins influence pulmonary structure and function...
  50. Masson W, Hughes H, Papworth D, Boyd Y, Horn N. Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. J Med Genet. 1997;34:729-32 pubmed
    ..Thus, in the mouse, the data obtained for copper retention/uptake at the cellular level do not correlate with the severity of the phenotype. ..
  51. Lyon M. Genetic activity of sex chromosomes in somatic cells of mammals. Philos Trans R Soc Lond B Biol Sci. 1970;259:41-52 pubmed
  52. Bhattacharjee A, Yang H, Duffy M, Robinson E, Conrad Antoville A, Lu Y, et al. The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria. J Biol Chem. 2016;291:16644-58 pubmed publisher
    Copper-transporting ATPase ATP7A is essential for mammalian copper homeostasis. Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies...
  53. Materia S, Cater M, Klomp L, Mercer J, La Fontaine S. Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B. J Biol Chem. 2012;287:2485-99 pubmed publisher
    b>ATP7A and ATP7B are copper-transporting P(1B)-type ATPases (Cu-ATPases) that are critical for regulating intracellular copper homeostasis...
  54. Lenartowicz M, Wieczerzak K, Krzeptowski W, Dobosz P, Grzmil P, Starzyński R, et al. Developmental changes in the expression of the Atp7a gene in the liver of mice during the postnatal period. J Exp Zool A Ecol Genet Physiol. 2010;313:209-17 pubmed publisher
    ..However, little is known about the expression and function of the second important P-type ATP-ase, ATP7A encoded by the Atp7a gene...
  55. Lyon M, Searle A, Ford C, Ohno S. A MOUSE TRANSLOCATION SUPPRESSING SEX-LINKED VARIEGATION. Cytogenetics. 1964;3:306-23 pubmed
  56. Cuthbert J. Wilson's disease: a new gene and an animal model for an old disease. J Investig Med. 1995;43:323-36 pubmed
    ..Liver transplantation can be necessary for individuals with acute hepatic failure or complications of cirrhosis. Gene therapy may evolve in the future; however, medical management is effective in most patients. ..
  57. Tracey I, Dunn J, Radda G. A 31P-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: potential model for the mitochondrial encephalomyopathies. Muscle Nerve. 1997;20:1352-9 pubmed
    ..The PCr recovery rate, measured by 31P-MRS, was sensitive to the muscle abnormality. This strain is best described as having chronic mitochondrial dysfunction. ..
  58. Cecchi C, Biasotto M, Tosi M, Avner P. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum Mol Genet. 1997;6:425-33 pubmed
    Mutations in the Atp7a gene, the mouse homologue of the MNK (ATP7A) gene, have been suggested to be responsible for the mottled phenotype...
  59. Gajkowska B, Wojewodzka U, Gajewska A, Styrna J, Jurkiewicz J, Kochman K. Growth hormone cell phagocytosis in adenohypophysis of mosaic mice: morphological and immunocytochemical electron microscopy study. Brain Res Bull. 2006;70:94-8 pubmed
    ..Loss of GH cells in mosaic mice by phagocytosis supported by FS cells may contribute to this effect. ..
  60. GRUNEBERG H. Threshold phenomena versus cell heredity in the manifestation of sex-linked genes in mammals. J Embryol Exp Morphol. 1969;22:145-79 pubmed
  61. Iwane S, Kawasaki H, Yamano T, Shimada M. Golgi study on the homozygote (Ml/Ml) of macular mutant mouse. Brain Dev. 1989;11:154-60 pubmed
    ..Our study indicates that these fetal mice may be useful for studying the pathological and biochemical condition of prenatal MKHD. ..
  62. Mori M, Nishimura M. A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse. Mamm Genome. 1997;8:407-10 pubmed
    We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease...
  63. Yoshimura N, Kida K, Usutani S, Nishimura M. Histochemical localization of copper in various organs of brindled mice after copper therapy. Pathol Int. 1995;45:10-8 pubmed
    ..This suggests impaired intracellular Cu transport from cytosol to organella, which in the kidney is refractory to the Cu therapy adopted. ..
  64. Haddad M, Patel K, Sullivan P, Goldstein D, Murphy K, Centeno J, et al. Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model. Mol Genet Metab. 2014;113:294-300 pubmed publisher a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A...
  65. Moran J, Bolton A, Tran P, Brown A, Dwyer N, Manning D, et al. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 2006;16:436-40 pubmed
    ..By using this approach, we identified DNA sequence changes in two ethylnitrosourea-induced mutants. ..
  66. Kiaei M, Bush A, Morrison B, Morrison J, Cherny R, Volitakis I, et al. Genetically decreased spinal cord copper concentration prolongs life in a transgenic mouse model of amyotrophic lateral sclerosis. J Neurosci. 2004;24:7945-50 pubmed
    ..These findings provide evidence supporting a role for copper in the pathogenesis of FALS linked to SOD1 mutations. ..
  67. Rinchik E, Stoye J, Frankel W, Coffin J, Kwon B, Russell L. Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouse. Mutat Res. 1993;286:199-207 pubmed
  68. Bulfield G, Siller W, Wight P, Moore K. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A. 1984;81:1189-92 pubmed
    ..Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome. ..
  69. Colasante G, Sessa A, Crispi S, Calogero R, Mansouri A, Collombat P, et al. Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev Biol. 2009;334:59-71 pubmed publisher
    ..Together, these data provide new insights into the molecular pathways regulated by Arx during telencephalon development. ..
  70. Linz R, Lutsenko S. Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins. J Bioenerg Biomembr. 2007;39:403-7 pubmed
    ..places within the secretory pathway and is critically dependent on the activity of copper-transporting ATPases ATP7A or ATP7B...
  71. Martin P, Ohno M, Southerland S, Mailman R, Suzuki K. Heterotypic sprouting of serotonergic forebrain fibers in the brindled mottled mutant mouse. Brain Res Dev Brain Res. 1994;77:215-25 pubmed
    ..If so, these data provide the first description of 5-HT heterotypic sprouting in mice, and the first description of 5-HT heterotypic sprouting resulting from a natural disease state, rather than an experimentally induced lesion. ..
  72. Kuo Y, Gitschier J, Packman S. Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet. 1997;6:1043-9 pubmed
    ..The mouse homologues for the Menkes (MNK) and Wilson (WND) disease genes are the mottled (Atp7a) and toxic milk (Atp7b) genes, respectively...
  73. Moore S, Cox D. Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b. Nephron. 2002;92:629-34 pubmed
    ..Several copper proteins are required for copper homeostasis. ATP7A and ATP7B are genes encoding membrane copper transporters...
  74. Siggs O, Cruite J, Du X, Rutschmann S, Masliah E, Beutler B, et al. Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease. Proc Natl Acad Sci U S A. 2012;109:13733-8 pubmed publisher
    ..physiology, as highlighted by the spectrum of diseases caused by disruption of the copper transporting enzymes ATP7A and ATP7B...
  75. Rowe D, McGoodwin E, Martin G, Sussman M, Grahn D, Faris B, et al. A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. J Exp Med. 1974;139:180-92 pubmed
    ..Furthermore the in vitro formation of lysine-derived aldehyde was reduced. Thus the cause of the connective tissue abnormalities in these mice appears to be a defect in cross-link formation due to an impairment in aldehyde formation. ..
  76. Griffiths I, Scott I, McCulloch M, Barrie J, McPhilemy K, Cattanach B. Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression. J Neurocytol. 1990;19:273-83 pubmed
    ..The rsh mutation, however, differs from jp in that affected mice have normal longevity, can breed, produce substantially more myelin and have increased numbers of oligodendrocytes. ..
  77. Lyon M. Order of loci on the X-chromosome of the mouse. Genet Res. 1966;7:130-3 pubmed
  78. Kotula Balak M, Lenartowicz M, Kowal M, Styrna J, Bilinska B. Testicular morphology and expression of aromatase in testes of mice with the mosaic mutation (Atp7a mo-ms). Theriogenology. 2007;67:423-34 pubmed
    ..The higher level of endogenous estrogens can additionally enhance morphological alterations within the testes. It seems also likely that excess estrogens may affect the survival rate of the mosaic males. ..
  79. Llanos R, Ke B, Wright M, Deal Y, Monty F, Kramer D, et al. Correction of a mouse model of Menkes disease by the human Menkes gene. Biochim Biophys Acta. 2006;1762:485-93 pubmed
    ..Males carrying the mutant allele of the Menkes gene orthologue Atp7a die in the second week of life...
  80. Nakagawa S, Fukata Y, Nagata H, Miyake M, Hama T. The decreased immune responses in macular mouse, a model of Menkes' kinky hair disease. Res Commun Chem Pathol Pharmacol. 1993;79:61-73 pubmed
    ..The percentage of Thy-1.2-positive cells (T cell) was decreased, and the decrease was most prominent with the L3/T4-positive T cell (helper T cell) subset. ..