Pik3cdem1Stgt
Endonuclease-mediated Allele Detail
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Symbol: |
Pik3cdem1Stgt |
Name: |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta; endonuclease-mediated mutation 1, Stuart G Tangye |
MGI ID: |
MGI:7539174 |
Synonyms: |
Pik3cdE1020K, Pik3cd GOF |
Gene: |
Pik3cd Location: Chr4:149733625-149787023 bp, - strand Genetic Position: Chr4, 80.15 cM
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Alliance: |
Pik3cdem1Stgt page
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Allele Type: |
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Endonuclease-mediated (Humanized sequence) |
Mutation: |
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Single point mutation
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Mutation details: Glutamic acid codon 1020 (GAA) in exon 22 was changed to lysine (AAA) (p.E1020K) using an sgRNA (targeting GAGCTTCGTTGAACTTCACCCGG) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.E1021K gain-of-function (GOF) mutation associated with PASLI (p110delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency) disease.
(J:292599)
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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
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Carrying any Pik3cd Mutation: |
43 strains or lines available
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Original: |
J:292599 Avery DT, et al., Germline-activating mutations in PIK3CD compromise B cell development and function. J Exp Med. 2018 Aug 6;215(8):2073-2095 |
All: |
2 reference(s) |
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