Human Disease and Mouse Model Detail

Human Disease

Term: Hyperlipidemia, Familial Combined; FCHL
OMIM ID: 144250

Synonyms

Familial Combined Hyperlipidemia

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...

Lpl

LPL

...both mouse and human orthologous genes.

Apoe	APOE
Ldlr	LDLR

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(APOC3)3707Bres

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
Apoe^tm1Unc/Apoe^tm1Unc Lpl^tm1Sem/Lpl^tm1Sem			involves: 129P2/OlaHsd	J:151434
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ldlr^tm1Her/Ldlr^tm1Her Tg(APOC3)3707Bres/?			involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	J:37861
Models involving transgenes or other mutation types.³
Ldlr^tm1Her/Ldlr^tm1Her Tg(APOC3)3707Bres/?			involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	J:37861
No similarity to the expected human disease phenotype was found.⁴
NOT	Tnfrsf1b^tm1Imx/Tnfrsf1b^tm1Imx		involves: 129S7/SvEvBrd * C57BL/6	J:45147

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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