Mouse Strain information
APB ID 4
Added 28/11/2005
Last Edited 10/05/2014
Strain name: C57BL/6JSfdAnu-Rc3h1san/AnuApb
Nickname: San Roque
Strain designation name: C57BL/6JSfdAnu-Rc3h1san/AnuApb
Genetics
Strain Types Mutant strain
Coisogenic
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: RING CCCH (C3H) domains 1  
Chromosome 1
Affected Gene Symbol Rc3h1
Protein expression of altered gene: Unknown
Genetic alteration of gene: ENU induced mutation
Location on chromosome (bp): 160906418-160974978 bp, + strand (From VEGA annotation of GRCm38)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:2685397
Synonyms Roquin
Allele Name sanroque
Allele Symbol Rc3h1san
MGI Allele Accession ID MGI:3581675
Ensembl Gene ID: ENSMUSG00000040423
Transcript ID: ENSMUST00000035911
Transcript name: Rc3h1-201
bp change: T to G at position 981 on cDNA
Exon number: 5
Exon ID: ENSMUSE00000536751
cDNA position: 981
Amino acid change: Methionine to Arginine at position 199
Sequence:
951CTAGGGGCTGCCAGTTCCTTGGACCAGCGATGCAGGAGGAAGCTCTGAAGCTGGTCTTGCTcDNA (forward strand)
189A--R--G--C--Q--F--L--G--P--A--M--Q--E--E--A--L--K--L--V--L--Lprotein
Version: NCBI m37, Ensembl build 54
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Spontaneous autoimmune disease. Systemic lupus erythematosus. Anti-nuclear autoantibodies (ANA), hypergammaglobulinemia, autoimmune nephritis, lymphadenopathy, increased numbers of CD44high activated memory T cells, increased numbers of T follicular helper cells, spontaneous germinal centres, CD28-independent activation of T cells. Increased ICOS mRNA and protein expression on T cells, defect in micro-RNA (mir) inhibition of mRNA stability.
Phenotype Heterozygous State Low penetrance in hets
Original Genetic Background C57BL/6JSfdAnu
Genetic Background Currently Maintained C57BL/6JSfdAnu
Coat Colour Black
Strain Images
Typical pattern of mixed antinuclear & anti-cytoplasmic autoantibodies in san/san mouse serum. E. glomerulonephritis. G. splenomegaly in san/san (left) compared to wild-type littermate spleen (right).
Typical pattern of mixed antinuclear & anti-cytoplasmic autoantibodies in san/san mouse serum. E. glomerulonephritis. G. splenomegaly in san/san (left) compared to wild-type littermate spleen (right).
Serum antibody concentration in unimmunised san/san mice and control heterozygous littermates, demonstrates polyclonal hypergammaglobulinemia and hyper-IgE.
Serum antibody concentration in unimmunised san/san mice and control heterozygous littermates, demonstrates polyclonal hypergammaglobulinemia and hyper-IgE.
Immunohistochemical staining of spleen cryosection from unimmunised wild-type (+/+) and san/san mouse, demonstrating large numbers of spontaneous germinal centres (PNA+ zones) and secondary follicles in san/san, compared to only primary IgD+ follicles in wild-type controls.
Immunohistochemical staining of spleen cryosection from unimmunised wild-type (+/+) and san/san mouse, demonstrating large numbers of spontaneous germinal centres (PNA+ zones) and secondary follicles in san/san, compared to only primary IgD+ follicles in wild-type controls.
Strain identification
How is this strain characterised? Genotyping
PCR protocols San Roque Mutant Screening PCR (MSPCR)
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Yes
Research value of this Strain Model for autoimmune disease such as Lupus
Applicable Research Areas Models for human disease
Cell biology
Immunology and inflammation
Keywords
  • Systemic lupus erythematosus (SLE)
  • autoimmunity
  • T cell
  • ubiquitin ligase
  • Wellcome Trust
  • ENU
  • lymphadenopathy
Additional Information Discovered by Wellcome Trust Screen for Antinuclear Autoantibodies (ANA) and autoimmune susceptibility. Identified by ANA screen, and in flow cytometry screen of blood lymphocytes by Dr Carola Vinuesa (JCSMR, ANU). Mutation mapped and identified by Dr Carola Vinuesa and Belinda Whittle. Project guided by Prof Chris Goodnow.
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 13 mice)

APB stock genotyped verified by: The APF
Are live mice available? Unknown
MTA needs to be signed? Yes


   

 


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