Rag1tm1Jsek
Targeted Allele Detail
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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
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Alliance: |
Rag1tm1Jsek page
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Germline Transmission: |
Earliest citation of germline transmission:
J:146912
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Parent Cell Line: |
TC1/TC-1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Hypomorph) |
Mutations: |
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Insertion, Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Rag1 Mutation: |
120 strains or lines available
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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) |
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