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Human Disease and Mouse Model Detail
Human Disease

Term: Episodic Ataxia, Type 1; EA1
OMIM ID: 160120

Synonyms Ataxia, Episodic, with Myokymia; AEM; AEMK; Episodic Ataxia with Myokymia; EAM; Paroxysmal Ataxia with Neuromyotonia, Hereditary
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Kcna1 KCNA1
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Kcna1tm1Jmay/Kcna1+   B6.129S4-Kcna1tm1Jmay J:82778

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory