Phenotypes Associated with This Genotype

Genotype
MGI:5796114

• Allelic Composition: Col8a2^tm2.1Asj/Col8a2^tm2.1Asj
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

• ♀: 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, although fewer dilated RER are observed in 40 week old mice

abnormal autophagy ( J:214908 )

• abnormal accumulation of mitochondria in 20 week old mice with large electron lucent vacuoles containing partially degraded organelles, vacuoles are mostly empty by 40 weeks

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 corneal endothelium morphology ( J:214908 )

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

• phenotype is less severe than in mice carrying the Col8a2^tm1.1Asj allele

• 14% fewer cells at 20 weeks of age; 33% fewer cells at 40 weeks of age; 39% 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 morpholog

• by 80 weeks only 26+/-12% 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 with large electron lucent vacuoles containing partially degraded organelles, vacuoles are mostly empty by 40 weeks

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:21908