{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T03:00:52Z","timestamp":1784689252394,"version":"3.55.0"},"reference-count":52,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:p>Several mutations affecting the transport of copper and zinc in humans and in mice have been discovered over the last 15 years, joining the long known disturbance of copper transport in Wilson's disease. Menkes' disease (classical and mild variant forms) and X linked Ehlers-Danlos syndrome (type IX, X linked cutis laxa) have features in common with one another and with the brindled (Mobr) and blotchy (Moblo) mouse mutants, respectively. There may be one allelic series of mutants in each species or two loci may be involved in each. The toxic milk mutant (tx) in the mouse may be homologous to Wilson's disease in man. The defect of intestinal absorption of zinc in acrodermatitis enteropathica has no homologue yet in the mouse. However, the lethal milk (lm) mutant in the mouse may be homologous to a condition of zinc deficiency described in a few breastfed, low birth weight infants. Many more genetic defects of transport of copper and of zinc may await discovery. Conversely, these mutants are valuable in elucidating the normal processes of copper and zinc transport.<\/jats:p>","DOI":"10.1136\/jmg.23.2.99","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"99-106","source":"Crossref","is-referenced-by-count":22,"title":["Of mice and men, metals and mutations."],"prefix":"10.1136","volume":"23","author":[{"given":"D M","family":"Danks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,4,1]]},"reference":[{"key":"ref_1","first-page":"188","article-title":"Menkes' kinky hair syndrome: an inherited defect in copper absorption with widespread effects","volume":"50","author":"Danks, D.M.; Campbell, P.E.; Stevens, B.J.; Mayne, V.; Cartwright, E.","year":"1972","unstructured":"Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. 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N Engl J Med 1975;293:1147-9.","journal-title":"N Engl J Med"},{"key":"ref_9","first-page":"1251","article-title":"Hereditary disorders of copper metabolism in Wilson's disease (hepatolenticular degeneration) and Menkes'","volume-title":"The metabolic basis of inherited disease","author":"Danks, D.M.","year":"1983","unstructured":"Danks DM. Hereditary disorders of copper metabolism in Wilson's disease (hepatolenticular degeneration) and Menkes' (steely-hair) disease. In: Stanbury JB. Wyngaarden JB, Fredrickson DS, Goldstein JL. Brown MS, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1983:1251-68."},{"key":"ref_10","first-page":"209","article-title":"Copper deficiency in humans. In: Biological roles of copper. Ciba Foundation Symposium 79","author":"Danks, D.M.","year":"1980","unstructured":"Danks DM. Copper deficiency in humans. In: Biological roles of copper. Ciba Foundation Symposium 79. 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J Biol Chem 1982;257:4639-45.","journal-title":"J Biol Chem"},{"key":"ref_20","first-page":"73","article-title":"Copper transport and utilisation in Menkes' syndrome and in mottled mice","volume":"1","author":"Danks, D.M.","year":"1977","unstructured":"Danks DM. Copper transport and utilisation in Menkes' syndrome and in mottled mice. Ibiorg Perspect Biol Med 1977;1:73-100.","journal-title":"Ibiorg Perspect Biol Med"},{"key":"ref_21","first-page":"5494","article-title":"Human metallothionein genes are clustered","volume-title":"on chromosome 16. Proc Natl Acad Sci","volume":"81","author":"Karin, M.; Eddy, R.L.; Henry, W.M.; Haley, L.L.; Byers, M.G.; Shows, T.B.","year":"1984","unstructured":"Karin M, Eddy RL, Henry WM, Haley LL, Byers MG, Shows TB. Human metallothionein genes are clustered on chromosome 16. 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J Pediatr 1981;98:97-9.","journal-title":"J Pediatr"},{"key":"ref_29","first-page":"\"61","article-title":"X-linked cutis laxa; defective cross-link formation in collagen due to decreased lysyl oxidase activity","volume":"303","author":"Byers, P.H.; Siegel, R.C.; Holbrook, K.A.; Narayanan, A.S.; Bornstein, P.; Hall, J.G.","year":"1980","unstructured":"Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG. X-linked cutis laxa; defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med 1980;303:61-5. -3 Kuivaniemi H, Peltonen L, Palotic A. Kaitila I, Kivirikko KI. Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. 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