Mouse Genome Informatics
cx
    Col8a1tm1Bjro/Col8a1tm1Bjro
Col8a2tm1Bjro/Col8a2tm1Bjro

B6.129S4-Col8a2tm1Bjro Col8a1tm1Bjro
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• dysgenesis of the anterior segment of the eye
• Descemet's membrane is markedly thinner and banded structures within the Descemet's membrane are completely absent
• 21.5% reduction in stroma thickness
• corneal endothelial cells are enlarged and decreased in number and show a decreased ability to proliferate in response to different growth factors in vitro
• increased depth of the anterior chamber (392 um vs. 223 um in controls)
• globoid, keratoglobus-like protrusion of the anterior chamber

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Corneal Dystrophy, Fuchs Endothelial, 1; FECD1 136800 J:100136
NOT Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2 609140 J:100136