Mouse Genome Informatics
hm
    Col8a2tm1.1Asj/Col8a2tm1.1Asj
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• at 5 and 10 months of age the endothelium shows accumulation of Descemet membrane excrescences
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen
• at 5 and 10 months of age the endothelium shows progressive variability in size and shape of cells and accumulation of Descemet membrane excrescences
• progressive reduction in central endothelial cell densities at 5 and 10 months of age
• at 10 months of age extremely dilated rough endoplasmic reticulum and abnormal mitochondrion are seen

cellular
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen in corneal endothelial cells
• at 10 months of age extremely dilated rough endoplasmic reticulum are seen in corneal endothelial cells
• abnormal mitochondrion are seen in corneal endothelial cells in mice at 10 months of age
• in corneal endothelial cells

Mouse Models of Human Disease
OMIM IDRef(s)
Corneal Dystrophy, Fuchs Endothelial, 1; FECD1 136800 J:179022