Ppip5k2^em1Yul
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ppip5k2^em1Yul
• Name: diphosphoinositol pentakisphosphate kinase 2; endonuclease-mediated mutation 1, Yutao Liu
• MGI ID: MGI:7840356
• Synonyms: Ppip5k2^S419A
• Gene: Ppip5k2 Location: Chr1:97633773-97698136 bp, - strand Genetic Position: Chr1, 47.76 cM
• Alliance: Ppip5k2^em1Yul page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a serine to alanine substitution at amino acid 419 (p.S419A). This is a pathogenic variant identified in a family with familial keratoconus. (J:360342)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ppip5k2 Mutation: 75 strains or lines available

References

• Original: J:360342 Akoto T, et al., Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):22
• All: 1 reference(s)