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Human Disease and Mouse Model Detail
Human Disease

Term: Lipodystrophy, Familial Partial, Type 2; FPLD2
OMIM ID: 151660

Synonyms FPL2; Lipoatrophic Diabetes; Lipodystrophy, Familial, of Limbs and Lower Trunk; Lipodystrophy, Familial Partial, Dunnigan Type; Lipodystrophy, Reverse Partial
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...
     
Zmpste24 ZMPSTE24
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Lmna LMNA
  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(Fabp4-LMNA*R482Q)11ACdl   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Fabp4-LMNA*R482Q)17CCdl

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Zmpste24tm1Lotn/Zmpste24tm1Lotn   involves: 129P2/Ola * C57BL/6 J:76209
Models involving transgenes or other mutation types.2
Tg(Fabp4-LMNA*R482Q)11ACdl/0   FVB-Tg(Fabp4-LMNA*R482Q)11ACdl J:149858
Tg(Fabp4-LMNA*R482Q)17CCdl/0   FVB/N-Tg(Fabp4-LMNA*R482Q)17CCdl J:149858
No similarity to the expected human disease phenotype was found.3
NOT Lmnatm1Stw/Lmna+   involves: 129S1/Sv * C57BL/6J J:75101
NOT Lmnatm1Stw/Lmnatm1Stw   involves: 129S1/Sv * C57BL/6J J:75101

1Human genes are associated with this disease. Mouse model genotypes do not 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.
3One 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory