Human Disease and Mouse Model Detail

Human Disease

Term: Epidermolysis Bullosa Junctionalis with Pyloric Atresia
OMIM ID: 226730

Synonyms

Aplasia Cutis Congenita with Gastrointestinal Atresia; Carmi Syndrome; Eb-Pa-Acc; Epidermolysis Bullosa, Junctional, with Pyloric Atresia; Epidermylosis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita; Jeb-Pa; Junctional Epidermolysis Bullosa with Pyloric Atresia

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...

Itgb4

ITGB4

...both mouse and human orthologous genes.

Itga6	ITGA6
Plec	PLEC

...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
Itgb4^tm1Fgg/Itgb4^tm1Fgg		involves: 129S1/Sv * C57BL/6	J:48924

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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