Human Disease and Mouse Model Detail

Human Disease

Term: Muscular Dystrophy, Limb-Girdle, Type 2H; LGMD2H
OMIM ID: 254110

Synonyms

Muscular Dystrophy, Hutterite Type; Sarcotubular Myopathy

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...

Trim32

TRIM32

...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
Trim32^{Gt(BGA355)Byg}/Trim32^{Gt(BGA355)Byg}		involves: 129P2/OlaHsd * C57BL/6	J:146155
Trim32^tm1Spc/Trim32^tm1Spc		involves: 129S/SvEvBrd * BALB/cJ * C57BL/6J	J:175798

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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