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Human Disease and Mouse Model Detail
Human Disease

Term: Epidermolysis Bullosa, Junctional, Non-Herlitz Type
OMIM ID: 226650

Synonyms Epidermolysis Bullosa Junctionalis, Disentis Type; Epidermolysis Bullosa Junctionalis, Non-Herlitz Type; Epidermolysis Bullosa Junctionalis, Progressive; Epidermolysis Bullosa Junctionalis, Severe Nonlethal
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...
Col17a1 COL17A1
Itgb4 ITGB4
Lama3 LAMA3
Lamb3 LAMB3
Lamc2 LAMC2
  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
Col17a1tm1Shzu/Col17a1tm1Shzu   B6.129-Col17a1tm1Shzu J:121695
Itgb4tm1Efu/Itgb4tm1Efu   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:77644
Lama3tm1Crt/Lama3tm1Crt   involves: 129 * C57BL/6J J:55865
Lamb3IAP/Lamb3IAP   involves: C3H * C57BL/6 J:42382
Lamc2jeb/Lamc2jeb   129X1/SvJ-Lamc2jeb J:158873

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