Tnfrsf1a^tm2.1Rsie
Targeted Allele Detail

Summary

• Symbol: Tnfrsf1a^tm2.1Rsie
• Name: tumor necrosis factor receptor superfamily, member 1a; targeted mutation 2.1, Richard M Siegel
• MGI ID: MGI:4461135
• Synonyms: TNFR1^C33Y
• Gene: Tnfrsf1a Location: Chr6:125326686-125339446 bp, + strand Genetic Position: Chr6, 59.32 cM
• Alliance: Tnfrsf1a^tm2.1Rsie page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160543
• 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: Exon 2 was replaced with a floxed neo cassette and modified exon 2 in which nucleotide substitutions result in the amino acid substitution of tyrosine for cysteine at position 33 (C33Y), mimicking a mutation associated with TNFR-associated periodic syndrome (TRAPS). Cre mediated recombination removes the neo cassette. (J:160543)

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: 52 strains or lines available

References

• Original: J:160543 Simon A, et al., Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci U S A. 2010 May 25;107(21):9801-6
• All: 3 reference(s)