Strain Name:

B10.SJL-Dysfim/AwaJ

Stock Number:

011128

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Availability:

Cryopreserved - Ready for recovery

This spontaneous mutation of the dysferlin (Dysf) gene displays progressive muscle weakness and may be useful as a model of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy.

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Deletion;
Additional information on Mice with Chromosomal Aberrations.
Type Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
 
Donating Investigator Amy Wagers,   Joslin Diabetes Center

Description
Mice that are homozygous for this mutation exhibit a progressive muscular dystrophy characterized by myofiber degeneration and increased fibrosis. Disease onset on the C57BL/10 background is apparent by 4 weeks of age and is severe by 8 months of age, although, mice can survive until 19 months. During the late stage of the disease muscles exhibit fatty and fibrotic tissue as well as inflammatory cells. Affected muscles include the proximal limbs, (quadriceps femoris and triceps brachii) and abdominals. The distal limbs, (gastocnemius, soleus, and tibialis anterior), diaphram, and biceps brachii appear to be only mildly affected even in the late stages of the disease. Both pyruvate and creatinine kinase levels are increased. Regeneration following notexin-induced muscle damage is impaired by delayed removal of necrotic fibers and an extended inflammatory period. This mutant mouse strain may be useful as a model of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy.

Development
The inflammatory myopathy (im) mutation arose spontaneously in the SJL inbred strain. The mutation was introgressed into C57BL/10ScSnHim for a minimum of 10 generations in the laboratory of Dr. Reginald Bittner at the Medical University of Vienna. Mice from this colony were transferred to Dr. Amy Wagers at the Joslin Diabetes Center and maintained by sibling matings. Dr. Wagers donated the strain to The Jackson Laboratory in 2010. Upon arrival, mice were bred to C57BL/10J for at least 1 generation to establish the colony.

Control Information

  Control
   000665 C57BL/10J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Dysfim allele
000686   SJL/J
View Strains carrying   Dysfim     (1 strain)

Strains carrying other alleles of Dysf
006830   129-Dysftm1Kcam/J
000646   A/J
013149   B6.129-Dysftm1Kcam/J
012767   B6.A-Dysfprmd/GeneJ
017917   B6.Cg-Dysfprmd Prkdcscid/J
017644   B6;129S6-Dysftm2.1Kcam/J
View Strains carrying other alleles of Dysf     (6 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Miyoshi Muscular Dystrophy 1; MMD1
Muscular Dystrophy, Limb-Girdle, Type 2B; LGMD2B
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Myopathy, Distal, with Anterior Tibial Onset; DMAT   (DYSF)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Dysfim/Dysfim

        SJL
  • muscle phenotype
  • dystrophic muscle
    • changes apparent from 3 weeks of age   (MGI Ref ID J:57764)
  • progressive muscle weakness
    • detectable by 3 weeks of age   (MGI Ref ID J:57764)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Neurobiology Research
Muscular Dystrophy
      Limb-Girdle type

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Dysfim
Allele Name inflammatory myopathy
Allele Type Spontaneous
Common Name(s) SJL-Dysf;
Strain of OriginSJL
Gene Symbol and Name Dysf, dysferlin
Chromosome 6
Gene Common Name(s) 2310004N10Rik; AI604795; D6Pas3; DNA segment, Chr 6, Pasteur Institute 3; FER1L1; LGMD2B; MMD1; RIKEN cDNA 2310004N10 gene; expressed sequence AI604795;
Molecular Note A 171 bp in-frame deletion in the encoded mRNA is predicted to remove 57 amino acids from the corresponding protein. This region corresponds to most of the fourth C2 domain of the protein, and the deletion likely results in instability of the protein. The molecular basis for the mutation is due to a splicing mutation in the gene, resulting from a deletion of a small tandem repeat. [MGI Ref ID J:67994]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Bittner RE; Anderson LV; Burkhardt E; Bashir R; Vafiadaki E; Ivanova S; Raffelsberger T; Maerk I; Hoger H; Jung M; Karbasiyan M; Storch M; Lassmann H; Moss JA; Davison K; Harrison R; Bushby KM; Reis A. 1999. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [letter] Nat Genet 23(2):141-2. [PubMed: 10508505]  [MGI Ref ID J:57764]

Additional References

Dysfim related

Burzyn D; Kuswanto W; Kolodin D; Shadrach JL; Cerletti M; Jang Y; Sefik E; Tan TG; Wagers AJ; Benoist C; Mathis D. 2013. A special population of regulatory T cells potentiates muscle repair. Cell 155(6):1282-95. [PubMed: 24315098]  [MGI Ref ID J:205258]

Chiu YH; Hornsey MA; Klinge L; Jorgensen LH; Laval SH; Charlton R; Barresi R; Straub V; Lochmuller H; Bushby K. 2009. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet 18(11):1976-89. [PubMed: 19286669]  [MGI Ref ID J:148110]

Heiman-Patterson TD; Deitch JS; Blankenhorn EP; Erwin KL; Perreault MJ; Alexander BK; Byers N; Toman I; Alexander GM. 2005. Background and gender effects on survival in the TgN(SOD1-G93A)1Gur mouse model of ALS. J Neurol Sci 236(1-2):1-7. [PubMed: 16024047]  [MGI Ref ID J:128550]

Kostek CA; Dominov JA; Miller JB. 2002. Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. Am J Pathol 160(3):833-9. [PubMed: 11891182]  [MGI Ref ID J:75304]

Nagaraju K; Rawat R; Veszelovszky E; Thapliyal R; Kesari A; Sparks S; Raben N; Plotz P; Hoffman EP. 2008. Dysferlin Deficiency Enhances Monocyte Phagocytosis: A Model for the Inflammatory Onset of Limb-Girdle Muscular Dystrophy 2B. Am J Pathol 172(3):774-785. [PubMed: 18276788]  [MGI Ref ID J:132272]

Suzuki N; Aoki M; Hinuma Y; Takahashi T; Onodera Y; Ishigaki A; Kato M; Warita H; Tateyama M; Itoyama Y. 2005. Expression profiling with progression of dystrophic change in dysferlin-deficient mice (SJL). Neurosci Res 52(1):47-60. [PubMed: 15811552]  [MGI Ref ID J:101826]

Terrill JR; Radley-Crabb HG; Iwasaki T; Lemckert FA; Arthur PG; Grounds MD. 2013. Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies. FEBS J 280(17):4149-64. [PubMed: 23332128]  [MGI Ref ID J:214561]

Turk R; Sterrenburg E; van der Wees CG; de Meijer EJ; de Menezes RX; Groh S; Campbell KP; Noguchi S; van Ommen GJ; den Dunnen JT; 't Hoen PA. 2006. Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J 20(1):127-9. [PubMed: 16306063]  [MGI Ref ID J:104560]

Vafiadaki E; Reis A; Keers S; Harrison R; Anderson LV; Raffelsberger T; Ivanova S; Hoger H; Bittner RE; Bushby K; Bashir R. 2001. Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport 12(3):625-9. [PubMed: 11234777]  [MGI Ref ID J:67994]

von der Hagen M; Laval SH; Cree LM; Haldane F; Pocock M; Wappler I; Peters H; Reitsamer HA; Hoger H; Wiedner M; Oberndorfer F; Anderson LV; Straub V; Bittner RE; Bushby KM. 2005. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord 15(12):863-77. [PubMed: 16288871]  [MGI Ref ID J:106591]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryWhile maintaining a live colony, these mice are bred as homozygotes.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   000665 C57BL/10J
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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