Human Disease and Mouse Model Detail

Human Disease

Term: Deafness, Autosomal Recessive 12; DFNB12
OMIM ID: 601386

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...

Cdh23

CDH23

...both mouse and human orthologous genes.

Atp2b2

ATP2B2

...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
Cdh23^12J/Cdh23^12J		involves: C57BL/6J	J:174758
Cdh23^Jera/Cdh23^Jera		involves: C57BL/6	J:174130
Cdh23^sals/Cdh23^sals		involves: C57BL/6J	J:147149

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