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Human Disease and Mouse Model Detail
Human Disease Hypercholesterolemia, Familial
OMIM ID: 143890
Synonyms FHC; FH; Hyper-Low-Density-Lipoproteinemia; Hypercholesterolemia; Hypercholesterolemic Xanthomatosis, Familial; Hyperlipoproteinemia, Type II; Hyperlipoproteinemia, Type IIA
View all models View ALL (7) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Ldlr* LDLR* View 7 models 1:1 Homology
     Abca1 ABCA1*   1:1 Homology
Apoa2 APOA2*   1:1 Homology
Ephx2 EPHX2*   1:1 Homology
Ghr GHR*   1:1 Homology
Itih4 ITIH4*   1:1 Homology
Ppp1r17 PPP1R17*   1:1 Homology
References Disease References using Mouse Models (7)

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
09/16/2014
MGI 5.19
The Jackson Laboratory