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Phenotypes Associated with This Genotype
Genotype
MGI:5305276
Allelic
Composition
Col8a2tm1.1Asj/Col8a2tm1.1Asj
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col8a2tm1.1Asj mutation (0 available); any Col8a2 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 5 and 10 months of age the endothelium shows accumulation of Descemet membrane excrescences (J:179022)
• at 5 and 10 months of age the endothelium shows accumulation of Descemet membrane excrescences (J:179022)
• at 5 and 10 months of age the endothelium shows progressive variability in size and shape of cells and accumulation of Descemet membrane excrescences (J:179022)
• progressive reduction in central endothelial cell densities at 5 and 10 months of age (J:179022)
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen (J:179022)
• at 10 months of age extremely dilated rough endoplasmic reticulum and abnormal mitochondrion are seen (J:179022)
• at 5 and 10 months of age the endothelium shows progressive variability in size and shape of cells and accumulation of Descemet membrane excrescences (J:179022)
• progressive reduction in central endothelial cell densities at 5 and 10 months of age (J:179022)
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen (J:179022)
• at 10 months of age extremely dilated rough endoplasmic reticulum and abnormal mitochondrion are seen (J:179022)

cellular
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen in corneal endothelial cells (J:179022)
• at 10 months of age extremely dilated rough endoplasmic reticulum are seen in corneal endothelial cells (J:179022)
• at 5 months of age prominent, dilated rough endoplasmic reticulum are seen in corneal endothelial cells (J:179022)
• at 10 months of age extremely dilated rough endoplasmic reticulum are seen in corneal endothelial cells (J:179022)
• abnormal mitochondrion are seen in corneal endothelial cells in mice at 10 months of age (J:179022)
• abnormal mitochondrion are seen in corneal endothelial cells in mice at 10 months of age (J:179022)
• in corneal endothelial cells (J:179022)
• in corneal endothelial cells (J:179022)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory