About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Hyperkalemic Periodic Paralysis; HYPP
OMIM ID: 170500

Synonyms Adynamia Episodica Hereditaria with or without Myotonia
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...
Scn4a SCN4A
  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
Scn4atm1.1Ljh/Scn4atm1.1Ljh   B6.129S4-Scn4atm1.1Ljh J:135831
Scn4atm1.1Ljh/Scn4a+   B6.129S4-Scn4atm1.1Ljh J:135831
Scn4atm1Ljh/Scn4atm1Ljh   B6.129S4-Scn4atm1Ljh J:135831
Scn4atm1Ljh/Scn4a+   B6.129S4-Scn4atm1Ljh J:135831

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
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory