C57BL/6-Rc3h1^san/H

Status	Available to order
EMMA ID	EM:02168
International strain name	C57BL/6-Rc3h1^san/H
Alternative name	San Roque; C57BL/6Apb-Rc3h1/Apb
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Rc3h1^san
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	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 centre	Mary 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

MGI phenotypes (gene matching)

crypts of Lieberkuhn abscesses / MGI
intestinal ulcer / MGI
lymphoid hyperplasia / MGI
enlarged spleen / MGI
enlarged lymph nodes / MGI
abnormal thymus development / MGI
abnormal lung development / MGI
decreased body weight / MGI
anemia / MGI
hepatic necrosis / MGI
postnatal growth retardation / MGI
increased activated T cell number / MGI
intestinal inflammation / MGI
liver inflammation / MGI
increased T cell derived lymphoma incidence / MGI
abnormal T cell differentiation / MGI
abnormal lymph node morphology / MGI
abnormal effector T cell morphology / MGI
increased IgG level / MGI
granulomatous inflammation / MGI
glomerulonephritis / MGI
colitis / MGI
no phenotypic analysis / MGI
curly tail / MGI
thrombocytopenia / MGI
small intestinal inflammation / MGI
abnormal neural tube closure / MGI
abnormal vertebral column morphology / MGI
increased anti-double stranded DNA antibody level / MGI
increased anti-nuclear antigen antibody level / MGI
abnormal small intestine crypts of Lieberkuhn morphology / MGI
increased spleen weight / MGI
increased T cell proliferation / MGI
immune system phenotype / MGI
increased CD4-positive, alpha beta T cell number / MGI
abnormal small intestinal villus morphology / MGI
abnormal lymph node germinal center morphology / MGI
increased circulating tumor necrosis factor level / MGI
abnormal intraepithelial T cell number / MGI
cecum inflammation / MGI
ileum inflammation / MGI
increased T follicular helper cell number / MGI
abnormal T follicular helper cell physiology / MGI
primary atelectasis / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
preweaning lethality, incomplete penetrance / 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
Cleavage of roquin and regnase-1 by the paracaspase MALT1 releases their cooperatively repressed targets to promote T(H)17 differentiation.;Jeltsch Katharina M, Hu Desheng, Brenner Sven, Zöller Jessica, Heinz Gitta A, Nagel Daniel, Vogel Katharina U, Rehage Nina, Warth Sebastian C, Edelmann Stephanie L, Gloury Renee, Martin Nina, Lohs Claudia, Lech Maciej, Stehklein Jenny E, Geerlof Arie, Kremmer Elisabeth, Weber Achim, Anders Hans-Joachim, Schmitz Ingo, Schmidt-Supprian Marc, Fu Mingui, Holtmann Helmut, Krappmann Daniel, Ruland Jürgen, Kallies Axel, Heikenwalder Mathias, Heissmeyer Vigo, ;2014;Nature immunology;15;1079-89; 25282160
Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses.;Behrens Gesine, Edelmann Stephanie L, Raj Timsse, Kronbeck Nina, Monecke Thomas, Davydova Elena, Wong Elaine H, Kifinger Lisa, Giesert Florian, Kirmaier Martin E, Hohn Christine, de Jonge Laura S, Pisfil Mariano Gonzalez, Fu Mingui, Theurich Sebastian, Feske Stefan, Kawakami Naoto, Wurst Wolfgang, Niessing Dierk, Heissmeyer Vigo, ;2021;Nature immunology;22;1563-1576; 34811541

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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

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C57BL/6-Rc3h1san/H