Human Disease and Mouse Model Detail

Human Disease

Term: Lipodystrophy, Congenital Generalized, Type 2; CGL2
OMIM ID: 269700

Synonyms

Berardinelli-Seip Congenital Lipodystrophy, Type 2; Berardinelli Syndrome; Brunzell Syndrome, Bscl2-Related; Lipoatrophic Diabetes, Congenital; Lipodystrophy, Berardinelli-Seip Congenital, Type 2; Lipodystrophy, Total, and Acromegaloid Gigantism; Seip Syndrome

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...

Bscl2

BSCL2

...both mouse and human orthologous genes.

Pparg

PPARG

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

Transgenes and
other mutation types

Tg(aP2-SREBF1c)9884Reh

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
Bscl2^tm1.2Gliu/Bscl2^tm1.2Gliu		involves: 129 * 129S4/SvJaeSor * C57BL/6 * FVB/N	J:173404
Models with phenotypic similarity to human disease where etiologies are distinct.²
Pparg^tm2Yba/Pparg⁺		involves: 129S1/SvImJ * C57BL/6	J:125992
Pparg^tm3Yba/Pparg⁺		involves: 129S1/SvImJ * C57BL/6	J:125992
Models involving transgenes or other mutation types.³
Tg(aP2-SREBF1c)9884Reh/0		involves: C57BL/6J * SJL	J:50770

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.

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