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Human Disease and Mouse Model Detail
Human Disease

Term: Epidermolysis Bullosa Simplex, Autosomal Recessive
OMIM ID: 601001

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...
Krt14 KRT14
  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
Krt14tm1Der/Krt14tm1Der   involves: 129X1/SvJ J:67320
Krt14tm1Efu/Krt14tm1Efu   involves: 129/Sv J:25763

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