Phenotypes Associated with This Genotype

Genotype
MGI:3836724

• Allelic Composition: Efhc1^tm1Kzy/Efhc1^tm1Kzy
• Genetic Background: B6.129P2-Efhc1^tm1Kzy

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

increased susceptibility to pharmacologically induced seizures ( J:145858 )

• increased susceptibility to generalized convulsive seizures following intraperitoneal treatment with pentylenetetrazole (PTZ) compared to wild-type controls

myoclonus ( J:145858 )

• 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

abnormal brain ependyma motile cilium physiology ( J:145858 )

• 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 ( J:145858 )

• enlarged brain ventricles at P0, P30 and 2 months of age

small hippocampus ( J:145858 )

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:145858 )

• increased susceptibility to generalized convulsive seizures following intraperitoneal treatment with pentylenetetrazole (PTZ) compared to wild-type controls

myoclonus ( J:145858 )

• 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

myoclonus ( J:145858 )

• 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

abnormal brain ependyma motile cilium physiology ( J:145858 )

• 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		DO ID	OMIM ID(s)	Ref(s)
juvenile myoclonic epilepsy		DOID:4890	OMIM:254770	J:145858