1996
DOI: 10.1093/hmg/5.10.1619
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The toxic milk mouse is a murine model of Wilson disease

Abstract: Wilson disease (WD) is an autosomal recessive defect of copper transport characterized by massive accumulation of copper in the liver, which can lead to liver failure. Mutations in a copper transporting ATPase (WND or ATP7B) have been shown to cause the disease. The toxic milk mouse mutant (tx) accumulates copper in the liver in a manner similar to that observed in patients with WD. However, some physiological differences between tx mice and human WD patients have cast doubts on whether this mutant mouse is a … Show more

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Cited by 169 publications
(80 citation statements)
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“…The increased transcription of a PfX-like molecule indicates increased peroxisome biogenesis, fulfilling the requirement for increased cellular metabolism. Likewise, the copper-transporting ATPase, a P-type ATPase which plays a role in excess copper removal by hepatocytes (29), may be a survival requirement of infected cells in ticks.…”
Section: Discussionmentioning
confidence: 99%
“…The increased transcription of a PfX-like molecule indicates increased peroxisome biogenesis, fulfilling the requirement for increased cellular metabolism. Likewise, the copper-transporting ATPase, a P-type ATPase which plays a role in excess copper removal by hepatocytes (29), may be a survival requirement of infected cells in ticks.…”
Section: Discussionmentioning
confidence: 99%
“…The toxic milk (tx) mouse is a mouse model of WD caused by an autosomal recessive point mutation in the murine ATP7B gene, leading to a methionine to valine change in the eighth transmembrane domain of ATP7B (49). This mutation abrogated the copper-induced trafficking of ATP7B in cells and conferred defective copper transport activity, which explained the hepatic copper accumulation in the tx mice (44,50).…”
Section: Atp7b Clusterin and Commd1 Exist In A Complex-co-mentioning
confidence: 99%
“…The clearest indication that ATP7B is involved in copper secretion is provided by the phenotype of the toxic milk (tx) mouse mutant. This autosomal recessive condition is caused by a mutation in Atp7b, the murine ortholog of ATP7B (Theophilos et al 1996). Homozygous mice accumulate massive amounts of hepatic copper because of the failure of the biliary excretion of copper, mediated by Atp7b.…”
mentioning
confidence: 99%