Mouse Strain information
APB ID 4742
Added 27/04/2009
Last Edited 14/05/2014
Strain name: CBA;B6-Rc3h1san/AnuApb
Nickname: San Roque:CBA
Strain designation name: CBA;B6-Rc3h1san/AnuApb
Genetics
Strain Types Mutant strain
Genetic Details Chemically induced
Mode of Inheritance Recessive
1.  Affected Gene Name: Ring finger and CCCH-type zinc finger domains 1  
Chromosome 1
Affected Gene Symbol Rc3h1
Protein expression of altered gene: Unknown
Genetic alteration of gene: ENU-induced mutation. A T to G transversion caused a non-conservative Met199Arg substitution. The substitution is predicted to disrupt the local helical structure.
Location on chromosome (bp): 162836601-162897985 bp, + strand (From NCBI annotation of NCBI Build 37)
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
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 of disease phenotype in Hets
Original Genetic Background C57BL/6
Genetic Background Currently Maintained CBA x C57BL/6
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
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 1 mice)

APB stock genotyped verified by: Unverified
Are live mice available? No
MTA needs to be signed? Yes


   

 


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