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| Nomenclature |
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Symbol:
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Tnfrsf1atm1Rsie
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Name:
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tumor necrosis factor receptor superfamily, member 1a;
targeted mutation 1, Richard M Siegel
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MGI ID: |
MGI:3808000 |
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Synonyms: |
T50M |
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Gene:
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Tnfrsf1a
Location:
Chr6:125349362-125362484 bp, + strand
Genetic Position: Chr6,
59.32 cM
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Mutation
origin |
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Germline Transmission:
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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:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
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 locus. 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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tnfrsf1a Mutation:
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15 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
