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Human Disease and Mouse Model Detail
Human Disease

Term: Bethlem Myopathy
OMIM ID: 158810

Synonyms Muscular Dystrophy, Benign Congenital; Myopathy, Benign Congenital, with Contractures
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...
Col6a1 COL6A1
  mousehuman...both mouse and human orthologous genes.
     
Col6a2 COL6A2
Col6a3 COL6A3
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Col6a1tm1Gmb/Col6a1tm1Gmb   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:51410, J:86734

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