Human Disease and Mouse Model Detail

Human Disease

Term: Lipodystrophy, Familial Partial, Type 3; FPLD3
OMIM ID: 604367

Synonyms

Lipodystrophy, Familial Partial, Associated with PPARG Mutations

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...

Pparg

PPARG

...both mouse and human orthologous genes.

Lep

LEP

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

Ppp1r3a

PPP1R3A

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lep^ob/Lep^ob Pparg^tm1Avp/Pparg⁺			involves: 129S2/SvPas * C57BL/6	J:116568
Pparg^tm2Yba/Pparg⁺			involves: 129S1/SvImJ * C57BL/6	J:125992
Pparg^tm3Yba/Pparg⁺			involves: 129S1/SvImJ * C57BL/6	J:125992
No similarity to the expected human disease phenotype was found.²
NOT	Pparg^tm1Avp/Pparg⁺		involves: 129S2/SvPas * C57BL/6	J:116568
NOT	Pparg^tm1Mae/Pparg⁺		involves: 129S6/SvEvTac * C57BL/6	J:91362
NOT	Pparg^tm1Rev/Pparg⁺		involves: 129S4/SvJae * C57BL/6J	J:60354

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One 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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