Phenotypes Associated with This Genotype

Genotype
MGI:3056757

• Allelic Composition: Kcnq1^tm2Kpfe/Kcnq1^tm2Kpfe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

absent pinna reflex ( J:93197 )

• no Preyer's reflex is seen

impaired coordination ( J:93197 )

• mutants are unable to balance on a still or rotating cylinder

impaired swimming ( J:93197 )

• mutants spiral underwater and have to be rescued in a swim test

head bobbing ( J:93197 )

• rapid head bobbing is seen

hyperactivity ( J:93197 )

bidirectional circling ( J:93197 )

• intermittent bidirectional circling is seen

cardiovascular system

increased QRS amplitude ( J:93197 )

• the QRS amplitude is increased

prolonged QT interval ( J:93197 )

• the JT, QT, and Qtc intervals are prolonged indicating a defect in ventricular repolarization

abnormal T wave ( J:93197 )

• T-wave area is increased

growth/size/body

decreased body weight ( J:93197 )

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

hearing/vestibular/ear

collapsed Reissner membrane ( J:93197 )

• Reissner's membrane lies against the lateral wall and on top of the spiral limbus and tectoral membrane of the organ of corti

abnormal membranous labyrinth morphology ( J:93197 )

• the membranous labyrinth has collapsed onto the sensory epithelium

cochlear inner hair cell degeneration ( J:93197 )

cochlear outer hair cell degeneration ( J:93197 )

increased or absent threshold for auditory brainstem response ( J:93197 )

• no characteristic ABR waveforms detected from homozygous mice even at 100-dB clicks and 8-, 16-, and 32-kHz pure tones

absent distortion product otoacoustic emissions ( J:93197 )

• no change in outer hair cell activity upon stimulation are detected

deafness ( J:93197 )

• no characteristic auditory brainstem recording waveforms and no change in outer hair cell activity upon stimulation are detected

syndromic hearing impairment ( J:93197 )

nervous system

cochlear inner hair cell degeneration ( J:93197 )

cochlear outer hair cell degeneration ( J:93197 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Jervell-Lange Nielsen syndrome		DOID:2842	OMIM:220400 OMIM:612347	J:93197