Analysis Tools
behavior/neurological
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• at 4 weeks or later, homozygotes fail to exhibit a Preyer's reflex
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• by P5, homozygotes display impaired righting when placed on their backs
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head bobbing
(
J:67873
)
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• at P20, homozygotes display rapid head bobbing
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hyperactivity
(
J:67873
)
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• at P20, homozygotes display hyperactivity associated with a shaker/waltzer phenotype
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• at P20, homozygotes exhibit intermittent bidirectional circling
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hearing/vestibular/ear
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• by P3, Reissner's membrane has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti
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• starting at P3, homozygotes display a progressive reduction in endolymph volume with vacuoles detected in the sensory epithelium by P70
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• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea
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• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea
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• by P5, mutant semicircular ducts display loss of the endolymph-filled lumen and a collapse of the vestibular membrane
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• at P8, homozygotes display severe and progressive loss of sensory hair cells in the cristae of semicircular canals
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• at P8, the vestibular membrane of the mutant utricle is markedly reduced
• by P70, the connective tissue that underlies the mutant utricle is absent
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• 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
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cardiovascular system
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• 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
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• homozygotes exhibit a mild cardiac hypertrophy
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• 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
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• homozygotes display a slighly prolonged PR-interval relative to wild-type mice
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• significant increases in P-wave area and duration
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• homozygotes display slightly longer QRS intervals relative to wild-type mice
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• homozygotes display significantly prolonged QT, QTc, and JT intervals
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• significant increases in T-wave area and duration
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nervous system
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• by P70, homozygotes exhibit extensive degradation of inner hair cells in all turns of the cochlea
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• by P70, homozygotes exhibit extensive degradation of outer hair cells in all turns of the cochlea
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growth/size/body
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• 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
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• homozygotes exhibit a mild cardiac hypertrophy
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Jervell-Lange Nielsen syndrome | DOID:2842 |
OMIM:220400 OMIM:612347 |
J:67873 | |
