Phenotypes Associated with This Genotype

Genotype
MGI:6273247

• Allelic Composition: Ubiad1^em1Wwk/Ubiad1⁺
• Genetic Background: C57BL/6N-Ubiad1^em1Wwk

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

cellular

abnormal mitochondrial morphology ( J:268574 )

• corneas show abnormal mitochondrial morphology in the epithelium, stromal keratocytes and the endothelium

vision/eye

abnormal cornea morphology ( J:268574 )

• corneas show abnormal mitochondrial morphology in the epithelium, stromal keratocytes and the endothelium

cornea deposits ( J:268574 )

• mice exhibit sporadic deposits in the intermediate and basal corneal epithelium and trace amounts of deposits in the corneal stroma at 6 weeks of age that increase progressively with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Schnyder corneal dystrophy		DOID:0060456	OMIM:121800	J:268574