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Phenotypes Associated with This Genotype
Genotype
MGI:5305276
Allelic
Composition
Col8a2tm1.1Asj/Col8a2tm1.1Asj
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col8a2tm1.1Asj mutation (1 available); any Col8a2 mutation (19 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
• 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 5 months of age prominent, dilated rough endoplasmic reticulum are seen
• 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


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
03/19/2024
MGI 6.23
The Jackson Laboratory