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Mouse model for men with klinefelter syndrome: a multifaceted fit for a complex disorder

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41XXY mouse models share many characteristics of the human 47XXY Klinefelter syndrome (KS). This manuscript discusses the relative role of androgen deficiency and X chromosome genes resulting in the XXY mouse phenotype. The similarities in phenotype between 47XXY men and 41XXY mice suggest that the clinical manifestations in XXY men may be because of gene-dosage effect from genes that escape X inactivation in mouse. Conclusion: 

The 41XXY mouse is an excellent model for KS.

Keywords: Androgen deficiency; Behavioural changes; Gene over dosage; Germ cell transplantation; Klinefelter syndrome; Osteopenia

Document Type: Research Article


Affiliations: 1: Division of Endocrinology, Department of Medicine, Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute, Torrance, CA, USA 2: Endocrine and Metabolic Research Program, Woolcock Institute of Medical Research, University of Sydney, Sydney, NSW, Australia 3: Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland

Publication date: 2011-06-01

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