Human Disease and Mouse Model Detail

Human Disease

Term: Hyperlipoproteinemia, Type I
OMIM ID: 238600

Synonyms

Chylomicronemia, Familial; Hyperchylomicronemia, Familial; Hyperlipemia, Essential Familial; Hyperlipemia, Idiopathic, Burger-Grutz Type; Hyperlipoproteinemia, Type IA; Lipase D Deficiency; LIPD Deficiency; Lipoprotein Lipase Deficiency; LPL Deficiency

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.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lpl^tm1Bres/Lpl⁺		involves: 129S4/SvJae * C57BL/6J	J:30062
Lpl^tm1Bres/Lpl^tm1Bres		involves: 129S4/SvJae * C57BL/6J	J:30062
Lpl^tm1Sem/Lpl⁺		involves: 129P2/OlaHsd * C57BL/6J	J:25652
Lpl^tm1Sem/Lpl^tm1Sem		involves: 129P2/OlaHsd * C57BL/6J	J:25652

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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