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Human Disease and Mouse Model Detail
Human Disease

Term: Epidermolysis Bullosa Simplex, Dowling-Meara Type
OMIM ID: 131760

Synonyms Ebs-Dm; Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type
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
Krt5 KRT5
  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/Krt14+
Tg(KRT14-cre/PGR)1Der/?
2 involves: 129X1/SvJ * FVB * ICR J:67320
Krt14tm1Der/Krt14+
Tg(KRT5-cre/PGR)1Der/?
2 involves: 129X1/SvJ * FVB * ICR J:67320
Krt14tm2Der/Krt14+   involves: 129X1/SvJ J:67320
Krt5tm1Tmm/Krt5tm1Tmm   involves: 129P2/OlaHsd * BALB/c J:76311

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Conditionally targeted allele(s)

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