Human Disease and Mouse Model Detail

Human Disease

Term: Deafness, Autosomal Recessive 1A; DFNB1A
OMIM ID: 220290

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...

Gjb2	GJB2
Gjb6	GJB6

...both mouse and human orthologous genes.

Gjb3

GJB3

...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
Gjb2^tm1Ugds/Gjb2^tm1Ugds Tg(Otog-cre)1Ugds/0	2	involves: 129P2/OlaHsd * C57BL/6	J:77823
Gjb6^tm1.1Fama/Gjb6^tm1.1Fama		involves: 129P2/OlaHsd * C57BL/6 * SJL	J:166362
Gjb6^tm1Kwi/Gjb6^tm1Kwi		involves: 129P2/OlaHsd * C57BL/6	J:80917

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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