Article
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.
Genomics - 1 Sept 2004
Casimiro Mathew C, Knollmann Bjoern C, Yamoah Ebenezer N, Nie Liping, Vary Jay C, Sirenko Syevda G, Greene Anne E, Grinberg Alexander, Huang Sing Ping, Ebert Steven N, Pfeifer Karl
Abstract excerpt
Inherited long QT syndrome is most frequently associated with mutations in KCNQ1, which encodes the primary subunit of a potassium channel. Patients with mutations in KCNQ1 may show only the cardiac defect (Romano-Ward syndrome or RWS) or may also have severe deafness (Jervell and Lange-Nielsen syndrome or JLNS). Targeted disruption of mouse Kcnq1 models JLNS in that mice are deaf and show abnormal ECGs. However,...
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