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Primary defect in copper transport underlies mottled mutants in the mouse

Abstract

THE results presented here show that a primary defect in copper transport underlies the mottled syndrome in the mouse. The X-linked mottled mutants thus offer an excellent system for the study of mammalian copper metabolism. They also provide an animal model of the inherited human copper deficiency, Menkes kinky hair disease1,2, which is also X-linked.

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References

  1. Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., and Sung, J. H., Pediatrics, 29, 764–779 (1962).

    CAS  PubMed  Google Scholar 

  2. Danks, D. M., Stevens, B. J., Campbell, P. E., Gillespie, J. M., Walker-Smith, J., Blomfield, J., and Turner, B., Lancet, i, 1100–1103 (1972).

    Article  Google Scholar 

  3. Grüneberg, H., J. Embryol. exp. Morph., 22, 145–179 (1969).

    PubMed  Google Scholar 

  4. Hunt, D. M., and Johnson, D. R., Biochem. Genet., 6, 31–40 (1972).

    Article  CAS  Google Scholar 

  5. Phillips, R. J. S., Genet. Res., 2, 290–295 (1961).

    Article  Google Scholar 

  6. Russell, L. B., and Saylors, C. L., Genetics, 47, 7–10 (1962).

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Fraser, A. S., Sobey, S., and Spicer, C. C., J. Genet., 51, 217–221 (1953).

    Article  Google Scholar 

  8. Cattanach, B. M., Pollard, C. E., and Perez, J. N., Genet. Res., 14, 223–235 (1969).

    Article  CAS  Google Scholar 

  9. Falconer, D. S., Z. indukt. Abstamm. VererbLehre, 85, 210–219 (1953).

    CAS  Google Scholar 

  10. Hunt, D. M., and Johnson, D. R., J. Neurochem., 19, 2811–2819 (1972).

    Article  CAS  Google Scholar 

  11. Molinoff, P. B., Weinshilboum, R., and Axelrod, J., J. Pharmac. exp. Ther., 178, 425–431 (1971).

    CAS  Google Scholar 

  12. Kaufman, S., and Friedman, S., Pharmac. Rev., 17, 71–99 (1965).

    CAS  Google Scholar 

  13. Ravin, H. A., J. Lab. clin. Med., 58, 161–168 (1961).

    CAS  PubMed  Google Scholar 

  14. Steinlieb, J., Morell, A. G., Tucker, W. D., Green, M. W., and Scheinberg, I. H., J. Lab. Invest., 40, 1834–1840 (1961).

    Google Scholar 

  15. Dowdy, R. P., Am. J. clin. Nur., 22, 887–892 (1969).

    Article  CAS  Google Scholar 

  16. Grahn, D., Fry, R. J. M., and Hamilton, K. T., Genetics, 61, 522 (abst.) (1969).

    Google Scholar 

  17. Carnes, W. H., Fedn Proc., 30, 995–1000 (1971).

    CAS  Google Scholar 

  18. Siegel, R. C., and Martin, G. R., J. biol. Chem., 245, 1653–1658 (1970).

    CAS  PubMed  Google Scholar 

  19. Grahn, D., Mouse News Letter, 48, 22 (1973).

    Google Scholar 

  20. Danks, D. M., Cartwright, E., Campbell, P. E., and Mayne, V., Lancet, ii, 1089 (1971).

    Article  Google Scholar 

  21. Danks, D. M., Cartwright, E., Stevens, B. J., and Townley, R. R. W., Science, 179, 1140–1142 (1973).

    Article  ADS  CAS  Google Scholar 

  22. Anton, A. H., and Sayre, D. F., J. Pharmac exp. Ther., 138, 360–375 (1962).

    CAS  Google Scholar 

  23. Carter, P., Clin. chim. Acta, 39, 497–505 (1972).

    Article  CAS  Google Scholar 

  24. Lyon, M. F., Nature, 190, 372–373 (1961).

    Article  ADS  CAS  Google Scholar 

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HUNT, D. Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249, 852–854 (1974). https://doi.org/10.1038/249852a0

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