Human Disease and Mouse Model Detail

Human Disease

Term: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;
OMIM ID: 600791

Synonyms

Dfnb4; Dilated Vestibular Aqueduct; DVA; Neurosensory Nonsyndromic Recessive Deafness 4; NSRD4

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...

Slc26a4

SLC26A4

...both mouse and human orthologous genes.

Foxi1	FOXI1
Kcnj10	KCNJ10

...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
Slc26a4^tm1.1Dontu/Slc26a4^tm1.1Dontu		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:175861
Slc26a4^tm1Egr/Slc26a4^tm1Egr		either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)	J:67072

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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