Phenotypes Associated with This Genotype

Genotype
MGI:7840351

• Allelic Composition: Ppip5k2^{tm1b(EUCOMM)Wtsi}/Ppip5k2^{tm1b(EUCOMM)Wtsi}
• Genetic Background: B6N(Cg)-Ppip5k2^{tm1b(EUCOMM)Wtsi}/J

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

vision/eye

abnormal cornea morphology ( J:360342 )

• about 62% of corneas exhibit pathological phenotypes at 3 months of age

• 58% of corneas exhibit pathological phenotypes at 6 months of age

• pathological corneal phenotypes include irregular corneal shapes, anterior surface abnormalities and thinning at the corneal periphery

• 15% of eyes have some corneal abnormalities such as bullous keratinopathy/ stromal edema/ stromal scarring, deep corneal neovascularization, and opacity

• 12% of eyes have some corneal abnormalities in the form of epithelial thickening, possible damage of keratinocytes, and/or stromal changes

cornea vascularization ( J:360342 )

• some eyes have deep corneal neovascularization

increased cornea epithelium thickness ( J:360342 )

• in some eyes

decreased cornea thickness ( J:360342 )

• decrease in central corneal thickness between 3 and 6 months per eye

• localized thinned areas are also seen

abnormal cornea stroma morphology ( J:360342 )

• some eyes exhibit stromal edema and/or stromal changes

cornea opacity ( J:360342 )

• in some eyes

cornea scarring ( J:360342 )

• some eyes exhibit stromal scarring

cardiovascular system

cornea vascularization ( J:360342 )

• some eyes have deep corneal neovascularization

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
keratoconus		DOID:10126	OMIM:148300 OMIM:608586 OMIM:608932 OMIM:609271 OMIM:614622 OMIM:614623 OMIM:614628 OMIM:614629	J:360342