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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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     LDLR* Ldlr* View 7 models HomoloGene and HGNC
     ABCA1* Abca1   HomoloGene and HGNC
APOA2* Apoa2   HomoloGene and HGNC
EPHX2* Ephx2   HomoloGene
GHR* Ghr   HomoloGene
ITIH4* Itih4   HomoloGene and HGNC
PPP1R17* Ppp1r17   HomoloGene and HGNC
References Disease References using Mouse Models (8)

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
08/25/2015
MGI 6.0
The Jackson Laboratory