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Rag1tm1Jsek
Targeted Allele Detail
Summary
Symbol: Rag1tm1Jsek
Name: recombination activating 1; targeted mutation 1, JoAnne Sekiguchi
MGI ID: MGI:3840831
Synonyms: Rag1S723C
Gene: Rag1  Location: Chr2:101468627-101479846 bp, - strand  Genetic Position: Chr2, 53.88 cM
Alliance: Rag1tm1Jsek page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:146912
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
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)
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: 2 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 Rag1 Mutation:  120 strains or lines available
References
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory