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Human Disease and Mouse Model Detail
Human Disease

Term: Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B
OMIM ID: 264350

Synonyms Pha I, Autosomal Recessive
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...
Scnn1b SCNN1B
Scnn1g SCNN1G
  mousehuman...both mouse and human orthologous genes.
     
Scnn1a SCNN1A
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Scnn1btm1Wsh/Scnn1btm1Wsh   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:53058
Scnn1gtm1Bhk/Scnn1gtm1Bhk   involves: 129P2/OlaHsd * C57BL/6 * DBA/2 J:50528

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
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory