Human Disease and Mouse Model Detail

Human Disease

Term: Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED
OMIM ID: 305100

Synonyms

Christ-Siemens-Touraine Syndrome; CST Syndrome; Ectodermal Dysplasia 1; ED1; Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked; ECTD1; Ectodermal Dysplasia, Anhidrotic, X-Linked; EDA; Ectodermal Dysplasia, Hypohidrotic, 1; HED1; EDA1; Xlhed

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...

Eda

EDA

...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
Eda^Ta-6J/Y		C57BL/6J A^w-J-Eda^Ta-6J/J	J:86628
Eda^Ta/Y		involves: A * C57BL * CBA * RIII	J:42660

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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