Human Disease and Mouse Model Detail

Human Disease

Term: Gitelman Syndrome
OMIM ID: 263800

Synonyms

Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria; Potassium and Magnesium Depletion

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...

Slc12a3

SLC12A3

...both mouse and human orthologous genes.

Stk39	STK39
Wnk4	WNK4

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Slc12a3^tm1Ges/Slc12a3^tm1Ges		Not Specified	J:50596
Models with phenotypic similarity to human disease where etiologies are distinct.²
Stk39^tm1.2Slin/Stk39^tm1.2Slin		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:165706
Wnk4^tm1Pfi/Wnk4^tm1Pfi		involves: 129S6/SvEvTac * C57BL/6J	J:184790

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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
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