Tnfrsf1atm1Rsie
Targeted Allele Detail
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Symbol: |
Tnfrsf1atm1Rsie |
Name: |
tumor necrosis factor receptor superfamily, member 1a; targeted mutation 1, Richard M Siegel |
MGI ID: |
MGI:3808000 |
Synonyms: |
T50M |
Gene: |
Tnfrsf1a Location: Chr6:125326686-125339446 bp, + strand Genetic Position: Chr6, 59.32 cM
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Alliance: |
Tnfrsf1atm1Rsie page
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Germline Transmission: |
Earliest citation of germline transmission:
J:139197
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
Not Specified
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: A targeting vector was prepared containing nucleotide mutations to produce a T50M mutation in the pre-ligand assembly domain of the gene. Mice were crossed with a Cre recombinase transgenic strain to remove a floxed neomycin selection cassette. Peripheral blood neutrophils from homozygotes have intracellular expression of the mutant protein but fail to express the protein on the cell surface.
(J:139197)
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Generation of the Tnfrsf1atm1Rsie and Tnfrsf1atm2.1Rsie alleles |
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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 Tnfrsf1a Mutation: |
52 strains or lines available
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Original: |
J:139197 Lobito AA, et al., Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood. 2006 Aug 15;108(4):1320-7 |
All: |
2 reference(s) |
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