All Phenotypes Ppip5k2<em1Yul> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppip5k2^em1Yul/Ppip5k2^em1Yul	C57BL/6J-Ppip5k2^em1Yul	MGI:7840360
ht2	Ppip5k2^em1Yul/Ppip5k2⁺	C57BL/6J-Ppip5k2^em1Yul	MGI:7840361

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

vision/eye

abnormal cornea morphology ( J:360342 )

• about 55% of corneas exhibit pathological phenotypes at both 3 and 6 months of age

• 8% of eyes have some corneal abnormalities such as bullous keratinopathy/ stromal edema/ stromal scarring, deep corneal neovascularization, and opacity

• 25% 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, however no difference is seen in central corneal thickness between 3 and 6 months per eye

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

Allelic Composition	Ppip5k2^em1Yul/Ppip5k2⁺
Genetic Background	C57BL/6J-Ppip5k2^em1Yul

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppip5k2^em1Yul mutation (0 available); any Ppip5k2 mutation (75 available)

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

vision/eye

abnormal cornea morphology ( J:360342 )

• about 60% of corneas exhibit pathological phenotypes at both 3 and 6 months of age

• 25% of eyes have some corneal abnormalities such as bullous keratinopathy/ stromal edema/ stromal scarring, deep corneal neovascularization, and opacity

• 30% 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 )

• more localized thinner areas in the cornea are seen than in homozygotes

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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