Phenotypes Associated with This Genotype

Genotype
MGI:5305276

• Allelic Composition: Col8a2^tm1.1Asj/Col8a2^tm1.1Asj
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal Descemet membrane morphology ( J:179022 )

• at 5 and 10 months of age the endothelium shows accumulation of Descemet membrane excrescences

abnormal cornea endothelium morphology ( 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

• 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

abnormal endoplasmic reticulum morphology ( J:179022 )

• 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 mitochondrial morphology ( J:179022 )

• abnormal mitochondrion are seen in corneal endothelial cells in mice at 10 months of age

increased apoptosis ( J:179022 )

• in corneal endothelial cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fuchs' endothelial dystrophy		DOID:11555	OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523	J:179022