All Phenotypes Efhc1<tm1Kzy> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efhc1^tm1Kzy/Efhc1^tm1Kzy	B6.129P2-Efhc1^tm1Kzy	MGI:3836724
ht2	Efhc1^tm1Kzy/Efhc1⁺	B6.129P2-Efhc1^tm1Kzy	MGI:3836725

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efhc1^tm1Kzy mutation (0 available); any Efhc1 mutation (46 available)

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

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

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile myoclonic epilepsy		DOID:4890	OMIM:254770	J:145858

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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