Human Disease and Mouse Model Detail

Human Disease

Term: Epidermolytic Hyperkeratosis; EHK
OMIM ID: 113800

Synonyms

Bullous Congenital Ichthyosiform Erythroderma; BCIE; Bullous Erythroderma Ichthyosiformis Congenita of Brocq; Bullous Ichthyosiform Erythroderma; BIE

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...

Krt1	KRT1
Krt10	KRT10

...both mouse and human orthologous genes.

Jup

JUP

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Krt10^tm1Tmm/Krt10⁺		either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6)	J:31853
Krt10^tm1Tmm/Krt10^tm1Tmm		either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6)	J:31853
Krt1^Mhdadsk12/Krt1⁺		C3HeB/FeJ-Krt1^Mhdadsk12	J:108758
Models with phenotypic similarity to human disease where etiologies are distinct.²
Jup^tm1Kem/Jup^tm1Kem		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:38047

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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