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Rag2tm1Avla
Targeted Allele Detail
Nomenclature
Symbol: Rag2tm1Avla
Name: recombination activating gene 2; targeted mutation 1, Anna Villa
MGI ID: MGI:3713766
Synonyms: Rag2R229Q, Rag2R229Qneodelta
Gene: Rag2  Location: Chr2:101624718-101632529 bp, + strand  Genetic Position: Chr2, 53.87 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
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:  80 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory