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Tnfrsf1atm1Rsie
Targeted Allele Detail
Nomenclature
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: Chr6:125349362-125362484 bp, + strand  Genetic Position: Chr6, 59.32 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:139197
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Tnfrsf1a Mutation:  15 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory