Human Disease and Mouse Model Detail

Human Disease

Term: Corneal Dystrophy, Fuchs Endothelial, 1; FECD1
OMIM ID: 136800

Synonyms

Corneal Dystrophy, Fuchs Endothelial, Early-Onset

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...

Col8a2

COL8A2

...both mouse and human orthologous genes.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Col8a2^tm1.1Asj/Col8a2^tm1.1Asj			involves: C57BL/6 * CBA	J:179022
No similarity to the expected human disease phenotype was found.²
NOT	Col8a1^tm1Bjro/Col8a1^tm1Bjro Col8a2^tm1Bjro/Col8a2^tm1Bjro		B6.129S4-Col8a2^tm1Bjro Col8a1^tm1Bjro	J:100136
NOT	Col8a2^Aca23/Col8a2⁺		C57BL/6J-Col8a2^Aca23	J:158259
NOT	Col8a2^Aca23/Col8a2^Aca23		C57BL/6J-Col8a2^Aca23	J:158259

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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