Rag2^em3Hwl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rag2^em3Hwl
• Name: recombination activating gene 2; endonuclease-mediated mutation 3, Han-Woong Lee
• MGI ID: MGI:6324704
• Synonyms: Rag2-R229Q
• Gene: Rag2 Location: Chr2:101455063-101462874 bp, + strand Genetic Position: Chr2, 53.87 cM
• Alliance: Rag2^em3Hwl page

Mutation origin

• Strain of Origin: C57BL/6JBomTac

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:276940)

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 Rag2 Mutation: 115 strains or lines available

References

• Original: J:276940 Jin Y, et al., The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice. Sci Rep. 2019 Mar 14;9(1):4415
• All: 1 reference(s)