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Human Disease and Mouse Model Detail
Human Disease

Term: Hypocalciuric Hypercalcemia, Familial, Type I; HHC1
OMIM ID: 145980

Synonyms Familial Benign Hypercalcemia 1; FBH1; FHH1
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...
Casr CASR
  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
CasrBCH002/CasrBCH002   C3HeB/FeJ-CasrBCH002 J:183993
CasrBCH003/CasrBCH003   C3HeB/FeJ-CasrBCH003 J:183993
CasrBCH004/CasrBCH004   C3HeB/FeJ-CasrBCH004 J:183993
CasrBCH007/CasrBCH007   C3HeB/FeJ-CasrBCH007 J:183993
CasrBCH011/CasrBCH011   C3HeB/FeJ-CasrBCH011 J:183993
CasrBCH013/CasrBCH013   C3HeB/FeJ-CasrBCH013 J:183993
Casrtm1Ces/Casr+   involves: 129X1/SvJ * Black Swiss J:29900

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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory