Animal Models for the Study of Human Disease: Chapter 31. Mouse Models for the Exploration of Klinefelter’s Syndrome

Animal Models for the Study of Human Disease: Chapter 31. Mouse Models for the Exploration of Klinefelter’s Syndrome
ISBN-10
0128072210
ISBN-13
9780128072219
Series
Animal Models for the Study of Human Disease
Category
Medical
Pages
1108
Language
English
Published
2013-05-29
Publisher
Elsevier Inc. Chapters
Authors
Joachim Wistuba, Steffi Werler, Lars Lewejohann

Description

Klinefelter syndrome (KS) is a frequent (0.2%) sex chromosomal disorder in males presenting with a 47,XXY karyotype. This condition is associated with infertility, hypogonadism, and metabolic and cognitive impairments. As experimental research is restrictive in patients, animal models for KS are needed to explore its molecular and genetic basis. Supernumerary X chromosomes due to meiotic nondisjunctions sporadically also occur in males of other mammalian species and provoke the same or at least some of the features observed in patients. However, as the condition is linked to infertility, the generation and availability of a substantial number of experimental animals cannot be fulfilled using individuals with the naturally occurring syndrome. Breeding of B6Ei.Lt-Y∗ mice carrying a mutated Y chromosome provides a sufficient number of males with a supernumerary X chromosome that resembles the human disorder and permits the design and performance of the complex investigations needed to elucidate the mechanisms at the heart of the pathology. This chapter reviews the insights obtained into studies into KS over the past decades and highlights the contribution made by the animal model.

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