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Mouse Strain information

APB ID

Added

28/11/2005

Last Edited

10/05/2014

Strain nomenclature:

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

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:

Exon ID:

ENSMUSE00000536751

cDNA position:

981

Amino acid change:

Methionine to Arginine at position 199

Sequence:
951	CTAGGGGCTGCCAGTTCCTTGGACCAGCGATGCAGGAGGAAGCTCTGAAGCTGGTCTTGCT	cDNA (forward strand)
189	A--R--G--C--Q--F--L--G--P--A--M--Q--E--E--A--L--K--L--V--L--L	protein

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).

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.

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?

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
Immunology and inflammation
Cell biology

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 14 mice)

APB stock genotyped verified by:

The APF

Are live mice available?

Unknown

MTA needs to be signed?

Yes