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Targeted Allele Detail
Symbol: Rag1tm1Jsek
Name: recombination activating gene 1; targeted mutation 1, JoAnne Sekiguchi
MGI ID: MGI:3840831
Synonyms: Rag1S723C
Gene: Rag1  Location: Chr2:101638282-101649501 bp, - strand  Genetic Position: Chr2, 53.88 cM
Germline Transmission:  Earliest citation of germline transmission: J:146912
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe serine to cysteine amino acid substitution was introduced at amino acid position 723. A floxed neomycin cassette was introduced downstream of the single coding exon and was later removed by transient expression of cre recombinase. Expression levels of the mutant protein were similar to endogenous levels as determined by immunoblot analysis of homozygote thymus. This allele is considered a functional hypomorph. (J:146912)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 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 Rag1 Mutation:  66 strains or lines available
Original:  J:146912 Giblin W, et al., Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation. Blood. 2009 Mar 26;113(13):2965-75
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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