Phenotypes Associated with This Genotype

Genotype
MGI:4438460

• Allelic Composition: Col8a2^Aca23/Col8a2^Aca23
• Genetic Background: C57BL/6J-Col8a2^Aca23

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

vision/eye

vision/eye phenotype ( J:158259 )

N • corneas do not develop opacities and remain transparent at least until 15 months

N • mice exhibit normal corneal epithelium proliferation, eye fundus, and visual acuity

abnormal eye morphology ( J:158259 )

• eye abnormalities are more severe than in heterozygotes

• mice exhibit enlarged axis compared with wild-type mice

decreased Descemet membrane thickness ( J:158259 )

• reduced Descemet's membrane thickness

decreased cornea thickness ( J:158259 )

decreased corneal stroma thickness ( J:158259 )

abnormal corneal epithelium morphology ( J:158259 )

• mice exhibit reduced epithelium compared with wild-type mice

abnormal eye anterior chamber morphology ( J:158259 )

• contains globoid, keratoglobus-like protrusion

enlarged eye anterior chamber ( J:158259 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Fuchs' endothelial dystrophy	DOID:11555	OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523	J:158259