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Symbol
Name
ID
Col8a2
collagen, type VIII, alpha 2
MGI:88464
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Corneal stromal edema
Abnormal corneal endothelium morphology
Abnormal Descemet membrane morphology
Corneal guttata
Descemet Membrane Folds
Reduced number of corneal endothelial cells
Keratitis
Corneal degeneration
Corneal dystrophy
Corneal opacity
Nyctalopia
Visual impairment
Reduced visual acuity
Visual loss
Eye movement-induced pain
Disease(s) Associated with COL8A2
Fuchs' endothelial dystrophy
posterior polymorphous corneal dystrophy 2

Mouse Phenotypes
vision/eye phenotype
abnormal eye morphology
abnormal Descemet membrane morphology
decreased Descemet membrane thickness
abnormal cornea endothelium morphology
abnormal cornea epithelium morphology
decreased cornea thickness
decreased cornea stroma thickness
abnormal eye anterior chamber morphology
enlarged eye anterior chamber
Availability Mouse Genotype
Col8a2Aca23/Col8a2Aca23 *
Col8a2tm1.1Asj/Col8a2tm1.1Asj
Col8a2tm1Bjro/Col8a2tm1Bjro
Col8a2tm2.1Asj/Col8a2tm2.1Asj
Col8a2Aca23/Col8a2+ *

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory