Human Disease and Mouse Model Detail

Human Disease

Term: Epidermolysis Bullosa, Junctional, Herlitz Type
OMIM ID: 226700

Synonyms

Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type; Epidermolysis Bullosa Junctionalis, Herlitz Type; Epidermolysis Bullosa Letalis; Herlitz-Pearson-Type Epidermolysis Bullosa; Jeb-Herlitz 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...

Lamb3	LAMB3
Lamc2	LAMC2

...both mouse and human orthologous genes.

Itga6

ITGA6

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Lama3

LAMA3

...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
Lamb3^IAP/Lamb3^IAP		involves: C3H * C57BL/6	J:42382
Lamc2^tm1Uit/Lamc2^tm1Uit		involves: C57BL/6	J:85981
Models with phenotypic similarity to human disease where etiologies are distinct.²
Itga6^tm1Egl/Itga6^tm1Egl		either: (involves: 129S2/SvPas * C57BL/6) or (involves: 129S2/SvPas * C57BL/6 * CD-1)	J:33712

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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