Phenotypes associated with this allele

• Allele Symbol: Col8a2^tm1.1Asj
• Allele Name: targeted mutation 1.1, Albert S Jun
• Allele ID: MGI:5305275
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col8a2^tm1.1Asj/Col8a2^tm1.1Asj	involves: 129S6/SvEvTac	MGI:5796117
hm2	Col8a2^tm1.1Asj/Col8a2^tm1.1Asj	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5305276

Genotype
MGI:5796117

hm1

• 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

Genotype
MGI:5305276

hm2

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

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