Pigv^em1Pmk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pigv^em1Pmk
• Name: phosphatidylinositol glycan anchor biosynthesis, class V; endonuclease-mediated mutation 1, Peter M Krawitz
• MGI ID: MGI:6717209
• Synonyms: Pigv^341E
• Gene: Pigv Location: Chr4:133387698-133399958 bp, - strand Genetic Position: Chr4, 66.25 cM
• Alliance: Pigv^em1Pmk page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced a C to A change at position 1022 (c.1022C>A) resulting in an alanine to glutamate substitution at amino acid 341 (p.A341E). Three additional silent mutations were identified. This is the most prevalent hypomorphic missense mutation in European individuals with glycosylphosphatidylinositol (GPI)-anchor biosynthesis deficiency. (J:299612)

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 Pigv Mutation: 50 strains or lines available

References

• Original: J:299612 Rodriguez de Los Santos M, et al., A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118
• All: 1 reference(s)