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
|
head bobbing
(
J:67873
)
• at P20, homozygotes display rapid head bobbing
|
hyperactivity
(
J:67873
)
• at P20, homozygotes display hyperactivity associated with a shaker/waltzer phenotype
|
• 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
|
growth/size/body
• 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
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Jervell-Lange Nielsen syndrome | DOID:2842 |
OMIM:220400 OMIM:612347 |
J:67873 |