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Human Disease and Mouse Model Detail
Human Disease

Term: Epidermolysis Bullosa Simplex with Muscular Dystrophy
OMIM ID: 226670

Synonyms Ebs-Md; Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy; MD-EBS; MDEBS
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...
Plec PLEC
  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
Plectm1Gwi/Plectm1Gwi   involves: 129S1/Sv * 129X1/SvJ J:59000
Plectm2Gwi/Plectm2Gwi   involves: 129S1/Sv * 129X1/SvJ J:59000

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
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory