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Human Disease and Mouse Model Detail
Human Disease

Term: Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB
OMIM ID: 226600

Synonyms Dystrophic Epidermolysis Bullosa, Autosomal Recessive
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...
Col7a1 COL7A1
  mousehuman...both mouse and human orthologous genes.
     
Grip1 GRIP1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Mmp1a MMP1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(KRT14-COL7A1*)1Shzu   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Col7a1tm1Lbt/Col7a1tm1Lbt   involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl J:136145
Col7a1tm1Uit/Col7a1tm1Uit   involves: 129S1/Sv J:155326
Col7a1tm1Uit/Col7a1tm1Uit   involves: 129S1/Sv * C57BL/6J J:58533
Col7a1tm1Uit/Col7a1tm1Uit
Tg(KRT14-COL7A1*)1Shzu/0
  involves: 129S1/Sv * C57BL/6 * DBA/2 J:155326
Models with phenotypic similarity to human disease where etiologies are distinct.2
Grip1tm1Paw/Grip1tm1Paw   involves: 129X1/SvJ * ICR J:79476
Models involving transgenes or other mutation types.3
Col7a1tm1Uit/Col7a1tm1Uit
Tg(KRT14-COL7A1*)1Shzu/0
  involves: 129S1/Sv * C57BL/6 * DBA/2 J:155326

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models involving transgenes or other mutation types may also appear in other sections of the table.

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