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Human Disease and Mouse Model Detail
Human Disease

Term: Mitochondrial Complex I Deficiency
OMIM ID: 252010

Synonyms Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of; Nadh-Coenzyme Q Reductase Deficiency; NADH:Q(1) Oxidoreductase Deficiency
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...
Ndufs4 NDUFS4
Ndufs6 NDUFS6
  mousehuman...both mouse and human orthologous genes.
     
Foxred1 FOXRED1
Ndufa1 NDUFA1
Ndufa11 NDUFA11
Ndufaf1 NDUFAF1
Ndufaf2 NDUFAF2
Ndufaf3 NDUFAF3
Ndufaf4 NDUFAF4
Ndufaf5 NDUFAF5
Ndufb3 NDUFB3
Ndufs1 NDUFS1
Ndufs2 NDUFS2
Ndufs3 NDUFS3
Ndufv1 NDUFV1
Ndufv2 NDUFV2
Nubpl NUBPL
  human...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
Ndufs4tm1Capt/Ndufs4+   involves: 129S6/SvEvTac * C57BL/6NTac J:192154
Ndufs6Gt(AR0138)Wtsi/Ndufs6Gt(AR0138)Wtsi   involves: 129P2/OlaHsd * C57BL/6 J:183619

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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory