B6.129S-Tnfrsf1atm1.1Gkl/Flmg
| Status | Available to order |
| EMMA ID | EM:04789 |
| International strain name | B6.129S-Tnfrsf1atm1.1Gkl/Flmg |
| Alternative name | p55-delta-NS |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Tnfrsf1atm1.1Gkl, |
| Gene/Transgene symbol | Tnfrsf1a |
Information from provider
| Provider | George Kollias |
| Provider affiliation | B.S.R.C. |
| Genetic information | A mutation deleting 15 nucleotides encoding amino acids 202-206 was introduced in exon 6 of mp55TNFR (Tnfrsf1a) gene. The targeting vector contained a 4.6-kb XbaI/SmaI genomic fragment as the left homology arm and a 4-kb Sma/HindIII genomic fragment, containing the mutation, as the right homology arm. A loxP flanked neo selection cassette (L2neo) was introduced into a SmaI site in intron 5 of Tnfrsf1a gene between the two homology arms and a PGK-tk selection marker was introduced at the 3' of targeting vector. The loxP flanked neo selection cassette was then removed by pronuclear injection of the pMC-cre recombinase plasmid in fertilized oocytes from mice carrying the targeted allele. Pups born from these oocytes were tested and showed to have undergone neo cassette excision. |
| Phenotypic information | p55-delta-NS homozygous and heterozygous mice exhibit chronic active hepatitis. Mutations in the human TNFRSF1A (p55TNFR) gene, causing reduced levels of shedding, were proposed to be responsible for a newly defined class of autoinflammatory diseases, termed TNFR1-associated periodic syndromes (TRAPS). Similarly to the TRAPS syndrome in humans, defective shedding of the p55TNFR in mice (p55-delta-NS) leads to a persistent expression of the receptor on the cell surface and acts as a dominant genetic trait to provoke spontaneous autoinflammatory reactions. |
| References |
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Information from EMMA
| Archiving centre | B.S.R.C. Alexander Fleming, Vari, Greece |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Tumor necrosis factor receptor 1 associated periodic syndrome / Orphanet_32960
Literature references
- Tumor necrosis factor (TNF) receptor shedding controls thresholds of innate immune activation that balance opposing TNF functions in infectious and inflammatory diseases.;Xanthoulea Sofia, Pasparakis Manolis, Kousteni Stavroula, Brakebusch Cord, Wallach David, Bauer Jan, Lassmann Hans, Kollias George, ;2004;The Journal of experimental medicine;200;367-76; 15289505