Mouse Genome Informatics
hm
    Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• no Preyer's reflex is seen
• mutants are unable to balance on a still or rotating cylinder
• mutants spiral underwater and have to be rescued in a swim test
• rapid head bobbing is seen
• intermittent bidirectional circling is seen

cardiovascular system
• the QRS amplitude is increased
• the JT, QT, and Qtc intervals are prolonged indicating a defect in ventricular repolarization
• T-wave area is increased

growth/size
• mutants are about 21% lighter than wild-type mice

hearing/vestibular/ear
• Reissner's membrane lies against the lateral wall and on top of the spiral limbus and tectoral membrane of the organ of corti
• the membranous labyrinth has collapsed onto the sensory epithelium
• no characteristic ABR waveforms detected from homozygous mice even at 100-dB clicks and 8-, 16-, and 32-kHz pure tones
• no change in outer hair cell activity upon stimulation are detected
• no characteristic auditory brainstem recording waveforms and no change in outer hair cell activity upon stimulation are detected

nervous system

Mouse Models of Human Disease
OMIM IDRef(s)
Jervell and Lange-Nielsen Syndrome 1; JLNS1 220400 J:93197