Pik3cd^em1.1Pls
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pik3cd^em1.1Pls
• Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta; endonuclease-mediated mutation 1.1, Pamela L Schwartzberg
• MGI ID: MGI:8213491
• Synonyms: Pik3cd^E1020K
• Gene: Pik3cd Location: Chr4:149733625-149787023 bp, - strand Genetic Position: Chr4, 80.15 cM
• Alliance: Pik3cd^em1.1Pls page

Mutation origin

• Strain of Origin: 129/Sv x C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A TALEN specific to exon 24 introduced a G to A point mutation resulting in a glutamate to lysine substitution at amino acid 1020 (p.E1020K) a loxP-flanked neomycin resistance gene upstream of exon 24. The neomycin resistance gene was deleted via cre-mediated recombination. This is the most common gain-of-function substitution in PIK3CD in patients (p.E1021K) with activated-PI3Kdelta syndrome (immunodeficiency 14). (J:282486)

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Pik3cd Mutation: 45 strains or lines available

References

• Original: J:282486 Preite S, et al., Hyperactivated PI3Kdelta promotes self and commensal reactivity at the expense of optimal humoral immunity. Nat Immunol. 2018 Sep;19(9):986-1000
• All: 1 reference(s)