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| Nomenclature |
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Symbol:
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Rag2tm1Avla
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Name:
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recombination activating gene 2;
targeted mutation 1, Anna Villa
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MGI ID: |
MGI:3713766 |
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Synonyms: |
Rag2R229Q, Rag2R229Qneodelta |
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Gene:
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Rag2
Location:
Chr2:101624718-101632529 bp, + strand
Genetic Position: Chr2,
53.87 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:122108
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Rag2 Mutation:
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47 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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