C57BL/6-Rc3h1san/H

Status

Available to order

EMMA IDEM:02168
International strain nameC57BL/6-Rc3h1san/H
Alternative nameSan Roque; C57BL/6Apb-Rc3h1/Apb
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolRc3h1san,
Gene/Transgene symbolRc3h1

Information from provider

ProviderChris Goodnow
Provider affiliationThe Australian National University
Genetic informationThis stock carries a T to G (M199R) point mutation resulting in protein domain inactivation. This strain was identified during systematically screening of the mouse genome for autoimmune regulators. This mouse strain has severe autoimmune disease resulting from a single recessive defect in a previously unknown mechanism for repressing antibody responses to self. The san roque mutation acts within mature T cells to cause formation of excessive numbers of follicular helper T cells and germinal centres. The mutation disrupts a repressor of Icos (inducible T cell co-stimulator), an essential co-stimulatory receptor for follicular T cells, and results in excessive production of the cytokine interleukin-21. San roque mice fail to repress diabetes-causing T cells, and develop high titres of autoantibodies and a pattern of pathology consistent with lupus. The causative mutation is in a gene of previously unknown function, roquin (Rc3h1), which encodes a highly conserved member of the RING-type ubiquitin ligase protein family. The Roquin protein is distinguished by the presence of a CCCH zinc-finger found in RNA-binding proteins, and localization to cytosolic RNA granules implicated in regulating messenger RNA translation and stability.
Phenotypic informationThis strain has the following phenotypic effects: autoimmune disease, antinuclear antibodies, lymphadenopathy, splenomegaly, hyper-IgG and systemic lupus erythematosus.
References
  • A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity.;Vinuesa Carola G, Cook Matthew C, Angelucci Constanza, Athanasopoulos Vicki, Rui Lixin, Hill Kim M, Yu Di, Domaschenz Heather, Whittle Belinda, Lambe Teresa, Roberts Ian S, Copley Richard R, Bell John I, Cornall Richard J, Goodnow Christopher C, ;2005;Nature;435;452-8; 15917799

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

MGI phenotypes (allele matching)
  • enlarged lymph nodes / MGI
  • increased T cell derived lymphoma incidence / MGI
  • abnormal lymph node morphology / MGI
  • increased IgG level / MGI
  • increased spleen weight / MGI
  • abnormal lymph node germinal center morphology / MGI
  • increased T follicular helper cell number / MGI
  • abnormal T follicular helper cell physiology / MGI
  • anemia / MGI
  • liver inflammation / MGI
  • abnormal T cell differentiation / MGI
  • glomerulonephritis / MGI
  • thrombocytopenia / MGI
  • increased anti-double stranded DNA antibody level / MGI
  • increased anti-nuclear antigen antibody level / MGI
  • crypts of Lieberkuhn abscesses / MGI
  • intestinal ulcer / MGI
  • lymphoid hyperplasia / MGI
  • enlarged spleen / MGI
  • decreased body weight / MGI
  • hepatic necrosis / MGI
  • increased activated T cell number / MGI
  • abnormal effector T cell morphology / MGI
  • granulomatous inflammation / MGI
  • colitis / MGI
  • small intestinal inflammation / MGI
  • abnormal small intestine crypts of Lieberkuhn morphology / MGI
  • increased T cell proliferation / MGI
  • increased CD4-positive, alpha beta T cell number / MGI
  • abnormal small intestinal villus morphology / MGI
  • increased circulating tumor necrosis factor level / MGI
  • abnormal intraepithelial T cell number / MGI
  • cecum inflammation / MGI
  • ileum inflammation / MGI

Literature references

  • A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity.;Vinuesa Carola G, Cook Matthew C, Angelucci Constanza, Athanasopoulos Vicki, Rui Lixin, Hill Kim M, Yu Di, Domaschenz Heather, Whittle Belinda, Lambe Teresa, Roberts Ian S, Copley Richard R, Bell John I, Cornall Richard J, Goodnow Christopher C, ;2005;Nature;435;452-8; 15917799

Order

Availabilities

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

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
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Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

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