Human Disease and Mouse Model Detail

Human Disease

Term: Deafness, X-Linked 2; DFNX2
OMIM ID: 304400

Synonyms

Deafness 3, Conductive, with Stapes Fixation; DFN3; Deafness, Conductive, with Stapes Fixation; Deafness, Mixed, with Perilymphatic Gusher; Nance Deafness; Perilymphatic Gusher-Deafness Syndrome; Sensorineural Deafness, Profound, with or without A Conductive Component, Associated with A Unique Developmental Abnormality of the Ear

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...

Pou3f4

POU3F4

...both mouse and human orthologous genes.

Gjb2	GJB2
Gjb6	GJB6

...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
Pou3f4^del-J/Y		C3HeB/FeJ-Pou3f4^del-J/J	J:83049
Pou3f4^del-J/Pou3f4^del-J		C3HeB/FeJ-Pou3f4^del-J/J	J:83049
Pou3f4^Slf/Pou3f4^Slf		C3H101H-Pou3f4^Slf	J:59387
Pou3f4^Slf/Y		C3H101H-Pou3f4^Slf	J:59387
Pou3f4^tm1Cren/Y		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:56294
Pou3f4^tm1Tno/Pou3f4⁺		involves: 129S4/SvJae * C57BL/6	J:108889
Pou3f4^tm1Tno/Pou3f4^tm1Tno		involves: 129S4/SvJae * C57BL/6	J:57298, J:108889
Pou3f4^tm1Tno/Y		involves: 129S4/SvJae * C57BL/6	J:57298

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