Mouse Genome Informatics
hm1
    Efhc1tm1Kzy/Efhc1tm1Kzy
B6.129P2-Efhc1tm1Kzy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
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 IDRef(s)
Epilepsy, Myoclonic Juvenile; EJM 254770 J:145858


Mouse Genome Informatics
ht2
    Efhc1tm1Kzy/Efhc1+
B6.129P2-Efhc1tm1Kzy
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
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
• frequency of myoclonus is increased 7 - 8 times 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

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

Mouse Models of Human Disease
OMIM IDRef(s)
Epilepsy, Myoclonic Juvenile; EJM 254770 J:145858