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Allele : Rag2<em3Hwl> recombination activating gene 2; endonuclease-mediated mutation 3, Han-Woong Lee

Primary Identifier  MGI:6324704 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Rag2
Strain of Origin  C57BL/6JBomTac Is Recombinase  false
Is Wild Type  false
molecularNote  A p.Arg229Gln mutation was created in the coding region by micro-injecting zygotes with Cas9 mRNA, Scr7, two sgRNAs, and an ssODN (single-stranded oligodeoxynucleotide) containing the desired GC>AG substitution plus three silent substitutions to prevent Cas9 re-cutting. The R229Q mutation is found in some severe combined immunodeficiency (SCID) and Omenn syndrome (OS) patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Rag2-R229Q,
  • Rag2-R229Q
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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