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Human Disease and Mouse Model Detail
Human Disease

Term: Enhanced S-Cone Syndrome; ESCS
OMIM ID: 268100

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...
Nr2e3 NR2E3
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Nr2e3rd7/Nr2e3rd7   Not Specified J:62171
Nr2e3rd7/Nr2e3rd7   B6.Cg-Nr2e3rd7/J J:107820

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory