Human Disease and Mouse Model Detail

Human Disease

Term: Cockayne Syndrome, Type B; CSB
OMIM ID: 133540

Synonyms

Ckn2

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.

Xpa

XPA

...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 Xpa^tm1Hvs/Xpa^tm1Hvs		involves: 129P2/OlaHsd * C57BL/6J	J:122013
Ercc6^tm1Gvh/Ercc6^tm1Gvh		involves: 129P2/OlaHsd * FVB	J:40211
Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Hvs/Xpa^tm1Hvs		B6.129P2-Xpa^tm1Hvs Ercc6^tm1Gvh	J:122013

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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12