Human Disease and Mouse Model Detail

Human Disease

Term: Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2
OMIM ID: 609140

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

...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
No similarity to the expected human disease phenotype was found.¹
NOT	Col8a1^tm1Bjro/Col8a1^tm1Bjro Col8a2^tm1Bjro/Col8a2^tm1Bjro		B6.129S4-Col8a2^tm1Bjro Col8a1^tm1Bjro	J:100136

¹One 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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