nervous system
|
• increased susceptibility to generalized convulsive seizures following intraperitoneal treatment with pentylenetetrazole (PTZ) compared to wild-type controls
|
|
• develop spontaneous recurrent involuntary muscular jerks of the entire body at 7 - 8 months of age
• episodes last about 200 ms and consist of 1 - 3 jerks with brief electromyographic bursts
• frequency of myoclonus is increased 7 - 8 times compared to wild-type controls
|
|
• enlarged brain ventricles at P0, P30 and 2 months of age
|
|
• the ciliary beat frequency is reduced compared to controls
• however, there is no abnormality in the diameter and length of ependymal cilia
|
behavior/neurological
|
• increased susceptibility to generalized convulsive seizures following intraperitoneal treatment with pentylenetetrazole (PTZ) compared to wild-type controls
|
|
• develop spontaneous recurrent involuntary muscular jerks of the entire body at 7 - 8 months of age
• episodes last about 200 ms and consist of 1 - 3 jerks with brief electromyographic bursts
• frequency of myoclonus is increased 7 - 8 times compared to wild-type controls
|
muscle
|
• develop spontaneous recurrent involuntary muscular jerks of the entire body at 7 - 8 months of age
• episodes last about 200 ms and consist of 1 - 3 jerks with brief electromyographic bursts
• frequency of myoclonus is increased 7 - 8 times compared to wild-type controls
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Epilepsy, Myoclonic Juvenile; EJM | 254770 | J:145858 | |