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Correction of a mouse model of Menkes disease by the human Menkes gene

Llanos, Roxana, Ke, Bi-Xia, Wright, Magali, Deal, Yolanda, Monty, Francois, Kramer, David and Mercer, Julian 2006, Correction of a mouse model of Menkes disease by the human Menkes gene, Biochimica et biophysica acta (BBA) - molecular basis of disease, vol. 1762, no. 4, pp. 485-493, doi: 10.1016/j.bbadis.2005.12.011.

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Title Correction of a mouse model of Menkes disease by the human Menkes gene
Author(s) Llanos, Roxana
Ke, Bi-Xia
Wright, Magali
Deal, Yolanda
Monty, Francois
Kramer, David
Mercer, Julian
Journal name Biochimica et biophysica acta (BBA) - molecular basis of disease
Volume number 1762
Issue number 4
Start page 485
End page 493
Publisher Elsevier B.V.
Place of publication Amsterdam, The Netherlands
Publication date 2006-04
ISSN 0925-4439
Keyword(s) gene correction
Menkes disease
copper-transporting ATPase
Menkes protein
brindled mutant mouse
CAG-promoter
Summary The brindled mouse is an accurate model of the fatal human X-linked copper deficiency disorder, Menkes disease. Males carrying the mutant allele of the Menkes gene orthologue Atp7a die in the second week of life. To determine whether the genetic defect in the brindled mice could be corrected by expression of the human Menkes gene, male transgenic mice expressing ATP7A from the chicken β-actin composite promoter (CAG) were mated with female carriers of the brindled mutation (Atp7aMo-br). Mutant males carrying the transgene survived and were fertile but the copper defect was not completely corrected. Unexpectedly males corrected with one transgenic line (T25#5) were mottled and resembled carrier females, this effect appeared to be caused by mosaic expression of the transgene. In contrast, males corrected with another line (T22#2) had agouti coats. Copper concentrations in tissues of the rescued mutants also resembled those of the heterozygous females, with high levels in kidney (84.6 ± 4.9 μg/g in corrected males vs. 137.0 ± 44.3 μg/g in heterozygotes) and small intestine (15.6 ± 2.5 μg/g in corrected males vs. 15.7 ± 2.8 μg/g in heterozygotes). The results show that the Menkes defect in mice is corrected by the human Menkes gene and that adequate correction is obtained even when the transgene expression does not match that of the endogenous gene.
Language eng
DOI 10.1016/j.bbadis.2005.12.011
Field of Research 100109 Transgenesis
Socio Economic Objective 970111 Expanding Knowledge in the Medical and Health Sciences
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2006, Elsevier B.V.
Persistent URL http://hdl.handle.net/10536/DRO/DU:30003757

Document type: Journal Article
Collections: School of Life and Environmental Sciences
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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.