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Allele : Pik3r2<em1Gldn> phosphoinositide-3-kinase regulatory subunit 2; endonuclease-mediated mutation 1, Jeffrey A Golden

Primary Identifier  MGI:7529483 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Pik3r2
Strain of Origin  C57BL/6 Is Recombinase  false
Is Wild Type  false
molecularNote  Glycine codon 367 (GGG) in exon 10 was changed to arginine (AGG) (c.1099G>A, p.G367R) using an sgRNA (targeting TAATACGACTCACTATAGGG) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human c.1117G>A (p.G373R) mutation associated with megalencephaly polymicrogyria polydactyly hydrocephalus (MPPH) syndrome.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pik3r2<KI>,
  • Pik3r2<KI>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele