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Human Disease and Mouse Model Detail
Human Disease

Term: Sitosterolemia
OMIM ID: 210250

Synonyms STSL
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...
Abcg5 ABCG5
Abcg8 ABCG8
  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
Abcg5tm1Plo/Abcg5tm1Plo   involves: 129P2/OlaHsd * C57BL/6J J:87209
Abcg5trac/Abcg5trac   A/J-Abcg5trac J:157223
Abcg8tm1Elk/Abcg8tm1Elk   involves: 129S6/SvEvTac * C57BL/6J J:94759

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