About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Hypercholesterolemia, Familial
OMIM ID: 143890

Synonyms FHC; FH; Hypercholesterolemic Xanthomatosis, Familial; Hyperlipoproteinemia, Type II; Hyperlipoproteinemia, Type IIA; Hyper-Low-Density-Lipoproteinemia
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...
Ldlr LDLR
  mousehuman...both mouse and human orthologous genes.
     
Apobec1 APOBEC1
Lep LEP
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Abca1 ABCA1
Apoa2 APOA2
Ephx2 EPHX2
Ghr GHR
Itih4 ITIH4
Ppp1r17 PPP1R17
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(Il1rn)1Dih   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Apobec1tm1Ddsn/Apobec1tm1Ddsn
Ldlrtm1Her/Ldlrtm1Her
  involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6 J:49125
LdlrHlb301/LdlrHlb301   C57BL/6J-LdlrHlb301/J J:82961
LdlrHlb301/Ldlr+   C57BL/6J-LdlrHlb301/J J:82961
Ldlrtm1Her/Ldlrtm1Her
Tg(Il1rn)1Dih/Tg(Il1rn)1Dih
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:76336
Ldlrtm1Her/Ldlrtm1Her   involves: 129S7/SvEvBrd J:84694
Ldlrtm1Her/Ldlrtm1Her   involves: 129S7/SvEvBrd * C57BL/6 J:102291
Ldlrtm1Her/Ldlrtm1Her
Lepob/Lepob
  B6.Cg-Lepob Ldlrtm1Her J:72027
Models involving transgenes or other mutation types.2
Ldlrtm1Her/Ldlrtm1Her
Tg(Il1rn)1Dih/Tg(Il1rn)1Dih
  involves: 129S7/SvEvBrd * C57BL/6 * CBA J:76336

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/03/2013
MGI 5.12
The Jackson Laboratory