Human Disease and Mouse Model Detail

Human Disease

Term: Leber Optic Atrophy
OMIM ID: 535000

Synonyms

Leber Hereditary Optic Neuropathy; LHON

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...

mt-Nd6

ND6

...both mouse and human orthologous genes.

...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
mt-Nd6^m3Dwa		B6.129S6-mt-Nd6^m3Dwa	J:192260

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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