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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kcnq1tm2Kpfe
targeted mutation 2, Karl Pfeifer
MGI:3056648
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kcnq1tm2Kpfe/Kcnq1tm2Kpfe involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N MGI:3056757


Genotype
MGI:3056757
hm1
Allelic
Composition
Kcnq1tm2Kpfe/Kcnq1tm2Kpfe
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kcnq1tm2Kpfe mutation (0 available); any Kcnq1 mutation (43 available)
phenotype observed in females
phenotype observed in males
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/body
• 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
DO ID OMIM ID(s) Ref(s)
Jervell-Lange Nielsen syndrome DOID:2842 OMIM:220400
OMIM:612347
J:93197





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory