behavior/neurological
• as early as 2 weeks of age, homozygotes have severe tonic-clonic seizures where they lay prone on one side, the whole body vibrating and the legs rigid and pointing away from the body
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mortality/aging
• homozygotes generally do not survive beyond 3 weeks of age
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growth/size/body
• homozygotes are smaller than unaffected littermates
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nervous system
• as early as 2 weeks of age, homozygotes have severe tonic-clonic seizures where they lay prone on one side, the whole body vibrating and the legs rigid and pointing away from the body
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hyperekplexia 1 | DOID:0060696 |
OMIM:149400 |
J:234690 |