Rag1^tm1Jsek
Targeted Allele Detail

Summary

• Symbol: Rag1^tm1Jsek
• Name: recombination activating 1; targeted mutation 1, JoAnne Sekiguchi
• MGI ID: MGI:3840831
• Synonyms: Rag1^S723C
• Gene: Rag1 Location: Chr2:101468627-101479846 bp, - strand Genetic Position: Chr2, 53.88 cM
• Alliance: Rag1^tm1Jsek 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 details: The 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)

Disease models

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: 123 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)