- 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
C57BL/6-Rc3h1san/H
Status | Available to order |
EMMA ID | EM:02168 |
International strain name | C57BL/6-Rc3h1san/H |
Alternative name | San Roque; C57BL/6Apb-Rc3h1 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Rc3h1san, |
Gene/Transgene symbol | Rc3h1 |
Information from provider
Provider | Chris Goodnow |
Provider affiliation | The Australian National University |
Genetic information | This 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 information | This strain has the following phenotypic effects: autoimmune disease, antinuclear antibodies, lymphadenopathy, splenomegaly, hyper-IgG and systemic lupus erythematosus. |
References |
|
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
MGI phenotypes (allele matching)
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
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).