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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kcnq1tm1Kpfe
targeted mutation 1, Karl Pfeifer
MGI:2680653
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kcnq1tm1Kpfe/Kcnq1tm1Kpfe involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3618869


Genotype
MGI:3618869
hm1
Allelic
Composition
Kcnq1tm1Kpfe/Kcnq1tm1Kpfe
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq1tm1Kpfe mutation (0 available); any Kcnq1 mutation (13 available)
phenotype observed in females
phenotype observed in males
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 (J:67873)
• at 4 weeks or later, homozygotes fail to exhibit a Preyer's reflex (J:67873)
• by P5, homozygotes display impaired righting when placed on their backs (J:67873)
• by P5, homozygotes display impaired righting when placed on their backs (J:67873)
• at P20, homozygotes display hyperactivity associated with a shaker/waltzer phenotype (J:67873)
• at P20, homozygotes display hyperactivity associated with a shaker/waltzer phenotype (J:67873)
• at P20, homozygotes display rapid head bobbing (J:67873)
• at P20, homozygotes display rapid head bobbing (J:67873)
• at P20, homozygotes exhibit intermittent bidirectional circling (J:67873)
• at P20, homozygotes exhibit intermittent bidirectional circling (J:67873)

hearing/vestibular/ear
• by P3, Reissner's membrane has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti (J:67873)
• by P3, Reissner's membrane has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti (J:67873)
• starting at P3, homozygotes display a progressive reduction in endolymph volume with vacuoles detected in the sensory epithelium by P70 (J:67873)
• starting at P3, homozygotes display a progressive reduction in endolymph volume with vacuoles detected in the sensory epithelium by P70 (J:67873)
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea (J:67873)
• by P5, mutant semicircular ducts display loss of the endolymph-filled lumen and a collapse of the vestibular membrane (J:67873)
• by P5, mutant semicircular ducts display loss of the endolymph-filled lumen and a collapse of the vestibular membrane (J:67873)
• at P8, homozygotes display severe and progressive loss of sensory hair cells in the cristae of semicircular canals (J:67873)
• at P8, homozygotes display severe and progressive loss of sensory hair cells in the cristae of semicircular canals (J:67873)
• at P8, the vestibular membrane of the mutant utricle is markedly reduced (J:67873)
• by P70, the connective tissue that underlies the mutant utricle is absent (J:67873)
• at P8, the vestibular membrane of the mutant utricle is markedly reduced (J:67873)
• by P70, the connective tissue that underlies the mutant utricle is absent (J:67873)
• 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 (J:67873)
• no vestibular hair cell degeneration is detected in the saccule even at P70 (J:67873)
• 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 (J:67873)
• no vestibular hair cell degeneration is detected in the saccule even at P70 (J:67873)

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 (J:67873)
• 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 (J:67873)
• homozygotes exhibit a mild cardiac hypertrophy (J:67873)
• homozygotes exhibit a mild cardiac hypertrophy (J:67873)
• in vivo, homozygotes exhibit impaired ventricular and atrial repolarization, as shown by significant increases in T- and P-wave area and duration, respectively (J:67873)
• however, no differences in QRS, T-wave morphology or QT interval are detected in preparations of isolated perfused hearts in vitro (J:67873)
• in vivo, homozygotes exhibit impaired ventricular and atrial repolarization, as shown by significant increases in T- and P-wave area and duration, respectively (J:67873)
• however, no differences in QRS, T-wave morphology or QT interval are detected in preparations of isolated perfused hearts in vitro (J:67873)
• homozygotes display a slighly prolonged PR-interval relative to wild-type mice (J:67873)
• homozygotes display a slighly prolonged PR-interval relative to wild-type mice (J:67873)
• significant increases in P-wave area and duration (J:67873)
• significant increases in P-wave area and duration (J:67873)
• homozygotes display slightly longer QRS intervals relative to wild-type mice (J:67873)
• homozygotes display slightly longer QRS intervals relative to wild-type mice (J:67873)
• homozygotes display significantly prolonged QT, QTc, and JT intervals (J:67873)
• homozygotes display significantly prolonged QT, QTc, and JT intervals (J:67873)
• significant increases in T-wave area and duration (J:67873)
• significant increases in T-wave area and duration (J:67873)

nervous system
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea (J:67873)
• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea (J:67873)

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





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory