Phenotypes Associated with This Genotype

Genotype
MGI:6273246

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

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

vision/eye

abnormal cornea morphology ( J:268574 )

• corneas show abnormal mitochondrial morphology and increased in mitochondrial DNA copy number and an increase in a subset of glycerophosphoglycerol species of phospholipids

cornea deposits ( J:268574 )

• 6 week old corneas show deposits scattered in the intermediate and basal corneal epithelium that are not seen in wild-type corneas

• corneal stroma shows a trace amount of deposits at 6 weeks of age, with levels of deposits increasing progressively with age

• however, mice exhibit intact corneas with no crystals, opacities, lipid deposits or other abnormalities, normal central and peripheral cornea morphology at 6 months of age, no abnormality in corneal epithelial barrier function or wound healing in the cornea

homeostasis/metabolism

abnormal phospholipid level ( J:268574 )

• four glycerophosphoglycerol species (34:1, 34:2, 36:2, and 44:8) of phospholipids show an increase in corneas compared to controls

cellular

abnormal mitochondrial morphology ( J:268574 )

• corneas show abnormal mitochondrial morphology in the epithelium, stromal keratocytes and the endothelium, with damage characterized by conversion of the normal distinct mitochondrial cristae into less distinct cristae that are often spherical

increased mitochondrial DNA content ( J:268574 )

• corneas show an increase in mitochondrial DNA copy number

abnormal mitochondrial crista morphology ( J:268574 )

• less distinct, blurred cristae in corneal cells

• cristae are spherical due to loss of normal linear and curvilinear shape

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