B6.129S-Tnfrsf1atm1.1Gkl/Flmg

Status

Available to order

EMMA IDEM:04789
Citation informationRRID:IMSR_EM:04789 

Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.

 
International strain nameB6.129S-Tnfrsf1atm1.1Gkl/Flmg
Alternative namep55-delta-NS
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolTnfrsf1atm1.1Gkl
Gene/Transgene symbolTnfrsf1a

Information from provider

ProviderGeorge Kollias
Provider affiliationB.S.R.C.
Genetic informationA 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 informationp55-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
  • 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

Information from EMMA

Archiving centreB.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
IMPC phenotypes (gene matching)
  • abnormal skin morphology / IMPC
  • increased large unstained cell number / IMPC
  • increased grip strength / IMPC
  • increased basophil cell number / IMPC
  • increased neutrophil cell number / IMPC
  • increased eosinophil cell number / IMPC
  • increased NK cell number / IMPC
  • abnormal cholesterol homeostasis / IMPC
  • decreased circulating calcium level / IMPC
  • increased lymphocyte cell number / IMPC
  • increased effector memory CD8-positive, alpha-beta T cell number / IMPC
  • increased circulating aspartate transaminase level / IMPC
  • enlarged heart / IMPC
  • increased leukocyte cell number / IMPC
  • decreased monocyte cell number / IMPC
  • abnormal heart morphology / IMPC
  • decreased neutrophil cell number / IMPC
MGI phenotypes (gene matching)
  • increased bone mineral density / MGI
  • abnormal Peyer's patch morphology / MGI
  • abnormal sleep pattern / MGI
  • abnormal immune system physiology / MGI
  • decreased IgG level / MGI
  • liver inflammation / MGI
  • lung inflammation / MGI
  • decreased inflammatory response / MGI
  • increased skin papilloma incidence / MGI
  • decreased tumor incidence / MGI
  • abnormal respiratory mechanics / MGI
  • abnormal airway responsiveness / MGI
  • abnormal lymph node B cell domain morphology / MGI
  • abnormal spleen germinal center morphology / MGI
  • abnormal Peyer's patch follicle morphology / MGI
  • decreased susceptibility to bacterial infection / MGI
  • increased susceptibility to bacterial infection / MGI
  • abnormal macrophage physiology / MGI
  • granulomatous inflammation / MGI
  • impaired skin barrier function / MGI
  • abnormal glutamate-mediated receptor currents / MGI
  • decreased circulating alanine transaminase level / MGI
  • abnormal cytokine secretion / MGI
  • no phenotypic analysis / MGI
  • abnormal nervous system physiology / MGI
  • abnormal response/metabolism to endogenous compounds / MGI
  • increased susceptibility to experimental autoimmune encephalomyelitis / MGI
  • decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
  • decreased susceptibility to autoimmune diabetes / MGI
  • increased susceptibility to parasitic infection / MGI
  • increased susceptibility to type I hypersensitivity reaction / MGI
  • decreased Peyer's patch number / MGI
  • abnormal follicular dendritic cell morphology / MGI
  • absent follicular dendritic cells / MGI
  • decreased IgG1 level / MGI
  • increased circulating tumor necrosis factor level / MGI
  • decreased circulating interleukin-6 level / MGI
  • decreased circulating interleukin-1 beta level / MGI
  • increased interleukin-6 secretion / MGI
  • decreased interleukin-6 secretion / MGI
  • abnormal chemokine secretion / MGI
  • decreased susceptibility to endotoxin shock / MGI
  • increased susceptibility to endotoxin shock / MGI
  • decreased physiological sensitivity to xenobiotic / MGI
  • increased sensitivity to induced cell death / MGI
  • increased sensitivity to induced morbidity/mortality / MGI
  • decreased sensitivity to induced morbidity/mortality / MGI
  • decreased sensitivity to xenobiotic induced morbidity/mortality / MGI
  • increased susceptibility to bacterial infection induced morbidity/mortality / MGI
  • abnormal neuron proliferation / MGI
  • abnormal oval cell physiology / MGI
  • tumor regression / MGI
  • impaired adaptive thermogenesis / MGI
  • decreased susceptibility to dopaminergic neuron neurotoxicity / MGI
  • decreased microglial cell number / MGI
  • impaired humoral immune response / MGI
  • impaired central nervous system regeneration / MGI

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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

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Practical information

Genotyping protocol

Example health report
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Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

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