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Mouse Models for Four Types of Waardenburg Syndrome by Masayoshi Tachibana; Yasuhito Kobayashi; Yoshibumi Matsushima is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Mouse Models for Four Types of Waardenburg Syndrome about?

Waardenburg syndrome (WS) is an auditory‐pigmentary syndrome caused by a deficiency of melanocytes and other neural crest‐derived cells. Depending on a variety of symptoms associated with the auditory‐pigmentary symptoms, WS is classified into four types: WS type 1 (WS1), WS2, WS3, and WS4. Six genes contributing to this syndrome –__PAX3, SOX10, MITF, SLUG, EDN3__ and __EDNRB__– have been cloned so far, all of them necessary for normal development of melanocytes. Mutant mice with coat color anomalies were helpful in identifying these genes, although the phenotypes of these mice did not necessarily perfectly match those of the four types of WS. Here we describe mice with mutations of murine homologs of WS genes and verify their suitability as models for WS with special interest in the cochlear disorder. The mice include __splotch__ (__Sp__), __microphthalmia__ (__mi__), __Slugh__^−/−^, __WS4__, __JF1__, __lethal‐spotting__ (__ls__), and __Dominant megacolon__ (__Dom__). The influence of genetic background on the phenotypes of mice mutated in homologs of WS genes is also addressed. Finally, possible interactions among the six WS gene products are discussed.

Who reads Mouse Models for Four Types of Waardenburg Syndrome?

Author

Masayoshi Tachibana; Yasuhito Kobayashi; Yoshibumi Matsushima

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0893-5785)

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)