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Allele : Pik3r1<em1Ekd> phosphoinositide-3-kinase regulatory subunit 1; endonuclease-mediated mutation 1, Elissa K Deenick

Primary Identifier  MGI:7539172 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Pik3r1
Strain of Origin  C57BL/6JAusb Is Recombinase  false
Is Wild Type  false
molecularNote  The exon/intron 11 splice donor site was targeted with an sgRNA (targeting GGAGTACACCCGTACTTCCCAGG) and an ssODN template using CRISPR/Cas9 technology, resulting in a G-to-A substitution that changes the G-GT splice site to G-AT, which leads to skipping of in-frame exon 11, which encodes part of the inter-SH2 domain. This mutation is the equivalent of a human splice donor mutation associated with PASLI (p110delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency) like disease or activated PI3Kdelta syndrome 2.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pik3r1 LOF,
  • Pik3r1<E11SpD>,
  • Pik3r1 LOF,
  • Pik3r1<E11SpD>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele