Rag2^tm1Avla
Targeted Allele Detail

Summary

• Symbol: Rag2^tm1Avla
• Name: recombination activating gene 2; targeted mutation 1, Anna Villa
• MGI ID: MGI:3713766
• Synonyms: Rag2^R229Q, Rag2^{R229Qneodelta}
• Gene: Rag2 Location: Chr2:101455063-101462874 bp, + strand Genetic Position: Chr2, 53.87 cM
• Alliance: Rag2^tm1Avla page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:122108
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: A targeting vector containing the R229Q substitution, 2 silent mutations (A823G, T826A), and an EGFP with a floxed neo, was inserted into the locus. The neo was subsequently removed via cre mediated recombination. (J:122108)

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

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: 117 strains or lines available

References

• Original: J:122108 Marrella V, et al., A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest. 2007 May;117(5):1260-9
• All: 5 reference(s)