Journal
JOURNAL OF CLINICAL INVESTIGATION
Volume 106, Issue 12, Pages 1447-1455Publisher
AMER SOC CLINICAL INVESTIGATION INC
DOI: 10.1172/JCI10897
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- NCI NIH HHS [R01 CA054358] Funding Source: Medline
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The K nu LQT1 gene encodes a voltage-gated potassium channel. Mutations in K nu LQT1 underlie the dominantly transmitted Ward-Romano long QT syndrome, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndrome, which causes both cardiac arrhythmia and congenital deafness. K nu LQT1 is also disrupted by balanced germline chromosomal rearrangements in patients with Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth and cancer. Because of the diverse human disorders and organ systems affected by this gene, we developed an animal model by inactivating the murine K nu lqt1. No electrocardiographic abnormalities were observed. However, homozygous mice exhibited complete deafness, as well as circular movement and repetitive falling, suggesting imbalance. Histochemical study revealed severe anatomic disruption of the cochlear and vestibular end organs, suggesting that K nu lqt1 is essential for normal development of the inner ear. Surprisingly, homozygous mice also displayed threefold enlargement by weight of the stomach resulting from mucous neck cell hyperplasia. Finally, there were no features of BWS, suggesting that K nu lqt1 is not responsible for BWS.
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