Phenotypes associated with this allele

• Allele Symbol: Ppip5k2^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5635268
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppip5k2^tm1b(EUCOMM)Wtsi/Ppip5k2^tm1b(EUCOMM)Wtsi	B6N(Cg)-Ppip5k2^tm1b(EUCOMM)Wtsi/J	MGI:7840351
ht2	Ppip5k2^tm1b(EUCOMM)Wtsi/Ppip5k2^+	B6N(Cg)-Ppip5k2^tm1b(EUCOMM)Wtsi/J	MGI:7840354
ht3	Ppip5k2^tm1b(EUCOMM)Wtsi/Ppip5k2^+	C57BL/6N-Ppip5k2^tm1b(EUCOMM)Wtsi/J	MGI:6679102

Genotype
MGI:7840351

hm1

• 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

Genotype
MGI:7840354

ht2

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

vision/eye

abnormal cornea morphology ( J:360342 )

• about 51% of corneas exhibit pathological phenotypes at 3 months of age

• 35% of corneas exhibit pathological phenotypes at 6 months of age

• 40% of eyes have some corneal abnormalities such as bullous keratinopathy/ stromal edema/ stromal scarring, deep corneal neovascularization, and opacity

• 20% 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

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

Genotype
MGI:6679102

ht3

• Allelic Composition: Ppip5k2^{tm1b(EUCOMM)Wtsi}/Ppip5k2⁺
• Genetic Background: C57BL/6N-Ppip5k2^{tm1b(EUCOMM)Wtsi}/J
• Cell Lines: EPD0428_7_H01

Data Sources

IMPC Data for Ppip5k2

behavior/neurological

decreased grip strength ( J:211773 )

♀

IMPC - JAX