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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efhc1tm1Kzy
targeted mutation 1, Kazuhiro Yamakawa
MGI:3774032
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efhc1tm1Kzy/Efhc1tm1Kzy B6.129P2-Efhc1tm1Kzy MGI:3836724
ht2
Efhc1tm1Kzy/Efhc1+ B6.129P2-Efhc1tm1Kzy MGI:3836725


Genotype
MGI:3836724
hm1
Allelic
Composition
Efhc1tm1Kzy/Efhc1tm1Kzy
Genetic
Background
B6.129P2-Efhc1tm1Kzy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efhc1tm1Kzy mutation (0 available); any Efhc1 mutation (15 available)
phenotype observed in females
phenotype observed in males
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
• the ciliary beat frequency is reduced compared to controls
• however, there is no abnormality in the diameter and length of ependymal cilia
• enlarged brain ventricles at P0, P30 and 2 months of age

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

cellular
• the ciliary beat frequency is reduced compared to controls
• however, there is no abnormality in the diameter and length of ependymal cilia

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




Genotype
MGI:3836725
ht2
Allelic
Composition
Efhc1tm1Kzy/Efhc1+
Genetic
Background
B6.129P2-Efhc1tm1Kzy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efhc1tm1Kzy mutation (0 available); any Efhc1 mutation (15 available)
phenotype observed in females
phenotype observed in males
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
• 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

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 ID Ref(s)
Epilepsy, Myoclonic Juvenile; EJM 254770 J:145858





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory