PMID:1547487

Citation	Shinkai, Y, Rathbun, G, Lam, KP, Oltz, EM, Stewart, V, Mendelsohn, M, Charron, J, Datta, M, Young, F and Stall, AM (1992) RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68:855-67
Abstract	We have generated mice that carry a germline mutation in which a large portion of the RAG-2 coding region is deleted. Homozygous mutants are viable but fail to produce mature B or T lymphocytes. Very immature lymphoid cells were present in primary lymphoid organs of mutant animals as defined by surface marker analyses and Abelson murine leukemia virus (A-MuLV) transformation assays. However, these cells did not rearrange their immunoglobulin or T cell receptor loci. Lack of V(D)J recombination activity in mutant pre-B cell lines could be restored by introduction of a functional RAG-2 expression vector. Therefore, loss of RAG-2 function in vivo results in total inability to initiate V(D)J rearrangement, leading to a novel severe combined immune deficient (SCID) phenotype. Because the SCID phenotype was the only obvious abnormality detected in RAG-2 mutant mice, RAG-2 function and V(D)J recombinase activity, per se, are not required for development of cells other than lymphocytes.
Links	PubMed
Keywords	Animals; Antibodies, Monoclonal; B-Lymphocytes/chemistry; Base Sequence; DNA Nucleotidyltransferases/analysis; DNA-Binding Proteins; Gene Rearrangement, T-Lymphocyte/genetics; Integrases; Mice; Mice, Mutant Strains; Mice, Transgenic; Molecular Sequence Data; Phenotype; Proteins/analysis; Proteins/genetics; Recombinases; T-Lymphocytes/chemistry
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
MOUSE:RAG2	involved_in	GO:0030183: B cell differentiation	ECO:0000315: mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
MOUSE:RAG2		GO:0030183: B cell differentiation	ECO:0000315:		P		Fig 3; there is a pronounced lack of mature B cells in RAG-2 deficient mice	complete CACAO 2853

References

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