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Human Disease and Mouse Model Detail
Human Disease

Term: Leigh Syndrome; LS
OMIM ID: 256000

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
Surf1 SURF1
  mousehuman...both mouse and human orthologous genes.
     
Sod2 SOD2
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Bcs1l BCS1L
Cox15 COX15
Dld DLD
Foxred1 FOXRED1
Ndufa10 NDUFA10
Ndufa12 NDUFA12
Ndufa2 NDUFA2
Ndufa9 NDUFA9
Ndufaf2 NDUFAF2
Ndufaf6 NDUFAF6
Ndufs3 NDUFS3
Ndufs7 NDUFS7
Ndufs8 NDUFS8
Sdha SDHA
  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
Ndufs4tm1.1Rpa/Ndufs4tm1.1Rpa   B6.129-Ndufs4tm1.1Rpa J:190475
Ndufs4tm1Rpa/Ndufs4tm1Rpa
Tg(Nes-cre)1Kln/0
3 involves: 129/Sv * C57BL/6 * SJL J:161393
Ndufs4tm1Rpa/Ndufs4tm1Rpa
Tg(Nes-cre)1Kln/0
3 B6.Cg-Tg(Nes-cre)1Kln Ndufs4tm1Rpa J:190475
Surf1tm1Zev/Surf1tm1Zev   involves: 129S7/SvEvBrd * C57BL/6J * DBA/2 J:81773
Models with phenotypic similarity to human disease where etiologies are distinct.2
Sod2tm1Cje/Sod2tm1Cje   involves: C57BL/6J J:45913

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Conditionally 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory