Phenotypes Associated with This Genotype

Genotype
MGI:5796117

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

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

cellular

abnormal endoplasmic reticulum morphology ( J:214908 )

• dilated RER is observed in corneal endothelium of mice at 20 and 40 weeks

abnormal autophagy ( J:214908 )

• abnormal accumulation of mitochondria in 20 week old mice

• presence of large amorphous regions in corneal endothelium of 40 week old mice

vision/eye

abnormal Descemet membrane morphology ( J:214908 )

• corneal guttae (focal outgrowths) or Descemet membrane excrescences observed at 20 weeks of age

• guttae increase in number over time

abnormal cornea endothelium morphology ( J:214908 )

• progressive decrease in cell density of corneal endothelial cells as compared to controls

• phenotype is more severe than in mice carrying the Col8a2^tm2.1Asj allele

• 26% fewer cells at 20 weeks of age; 36% fewer cells at 40 weeks of age; 68% fewer cells at 80 weeks of age as compared to controls

• progressive increase in number of corneal endothelial cells that do not exhibit a hexagonal morphology

• by 80 weeks 2+/-5% of cells exhibit hexagonal shape

• dilated RER is observed in corneal endothelium of mice at 20 and 40 weeks

homeostasis/metabolism

abnormal autophagy ( J:214908 )

• abnormal accumulation of mitochondria in 20 week old mice

• presence of large amorphous regions in corneal endothelium of 40 week old mice

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:214908