Mouse Genome Informatics
hm
    Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Histological analysis of inner ear structures of wild-type and Kcnq1tm1Kpfe/Kcnq1tm1Kpfe mice.

behavior/neurological
• at 4 weeks or later, homozygotes fail to exhibit a Preyer's reflex
• by P5, homozygotes display impaired righting when placed on their backs
• at P20, homozygotes display hyperactivity associated with a shaker/waltzer phenotype
• at P20, homozygotes display rapid head bobbing
• at P20, homozygotes exhibit intermittent bidirectional circling

hearing/vestibular/ear
• by P3, Reissner's membrane has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti
• starting at P3, homozygotes display a progressive reduction in endolymph volume with vacuoles detected in the sensory epithelium by P70
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea
• by P5, mutant semicircular ducts display loss of the endolymph-filled lumen and a collapse of the vestibular membrane
• at P8, homozygotes display severe and progressive loss of sensory hair cells in the cristae of semicircular canals
• at P8, the vestibular membrane of the mutant utricle is markedly reduced
• by P70, the connective tissue that underlies the mutant utricle is absent
• at P0, the vestibular membrane has collapsed on the otoconia of the saccular macula; however, by P8, a small cavity is present in the mutant saccule
• no vestibular hair cell degeneration is detected in the saccule even at P70

cardiovascular system
• homozygotes show a significant increase in total heart weight (163 35 mg vs 124 28) and dry ventricular heart weights (125 27 mg vs 101 19) relative to wild-type mice
• homozygotes exhibit a mild cardiac hypertrophy
• in vivo, homozygotes exhibit impaired ventricular and atrial repolarization, as shown by significant increases in T- and P-wave area and duration, respectively
• however, no differences in QRS, T-wave morphology or QT interval are detected in preparations of isolated perfused hearts in vitro
• homozygotes display a slighly prolonged PR-interval relative to wild-type mice
• significant increases in P-wave area and duration
• homozygotes display slightly longer QRS intervals relative to wild-type mice
• homozygotes display significantly prolonged QT, QTc, and JT intervals
• significant increases in T-wave area and duration

nervous system
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea

Mouse Models of Human Disease
OMIM IDRef(s)
Jervell and Lange-Nielsen Syndrome 1; JLNS1 220400 J:67873