Tnfrsf1a^tm1Rsie
Targeted Allele Detail

Summary

• Symbol: Tnfrsf1a^tm1Rsie
• 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
• Alliance: Tnfrsf1a^tm1Rsie page

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 (Humanized sequence) Mutations: Insertion, Nucleotide substitutions 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)

Generation of the Tnfrsf1a^tm1Rsie and Tnfrsf1a^tm2.1Rsie alleles

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Tnfrsf1a Mutation: 51 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)