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
|
head bobbing
(
J:93197
)
• rapid head bobbing is seen
|
hyperactivity
(
J:93197
)
• 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 |