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Human Disease and Mouse Model Detail
Human Disease

Term: Muscular Dystrophy, Limb-Girdle, Type 2B; LGMD2B
OMIM ID: 253601

Synonyms Muscular Dystrophy, Limb-Girdle, Type 3; LGMD3
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...
Dysf DYSF
  mousehuman...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
Dysfim/Dysfim   SJL J:57764
Dysfprmd/Dysfprmd   A/J J:92838
Dysftm1Kcam/Dysftm1Kcam   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:83126
Dysftm1Meho/Dysftm1Meho   involves: 129S4/SvJae * C57BL/6 J:92838

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory