Human Disease and Mouse Model Detail

Human Disease

Term: Cerebrooculofacioskeletal Syndrome 1; COFS1
OMIM ID: 214150

Synonyms

Cofs Syndrome; COFS; Pena-Shokeir Syndrome, Type II

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...

Ercc6

ERCC6

...both mouse and human orthologous genes.

Xpc

XPC

...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
Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpc^tm1Brd/Xpc^tm1Brd		involves: 129P2/OlaHsd * 129S7/SvEvBrd	J:182229

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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