Nature Genetics
7, 541 - 545 (1994)
doi:10.1038/ng0894-541
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease geneJingshi Wu1, John R. Forbes1, Hai Shiene Chen1
& Diane W. Cox1, 2, 3
1Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
2Departments of Molecular and Medical Genetics and Paediatrics, University of Toronto, Toronto, Canada
3Correspondence should be addressed to D.W.C. The Long−Evans Cinnamon (LEC) rat shows similarity to Wilson disease in many clinical and biochemical features. We have cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat. The deletion removes at least 900 bp of the coding region at the 3' end, includes the crucial ATP binding domain and extends downstream of the gene. Our results provide convincing evidence for defining the LEC rat as an animal model for Wilson disease. This model will be important for studying liver pathophysiology, for developing therapy for Wilson disease and for studying the pathway of copper transport and its possible interaction with other heavy metals.
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