Strain Name:

B6.A-Dysfprmd/GeneJ

Stock Number:

012767

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Availability:

Cryopreserved - Ready for recovery

These Bl/AJ (BlAJ or Bla/J) mice have the progressive muscular dystrophy allele of dysferlin (Dysfprmd) from the A/J inbred strain introgressed into the C57BL/6 genetic background. Bl/AJ mice display centronucleated fibers and 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 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
GenerationN9+N1pN1
Generation Definitions
 
Donating InvestigatorDr. Isabelle Richard,   Genethon

Description
In these Bl/AJ (BlAJ or Bla/J) mice, the progressive muscular dystrophy allele (prmd) from the A/J inbred strain is introgressed into the C57BL/6 genetic background. Disease onset is observed by 2 months and is characterized by the presence of centronucleated fibers and areas of inflammation. As seen with the original background A/J, mice homozygous for the prmd allele on the C57BL/6J background display an increasing number of centronucleated fibers and impairment in the majority of muscles by 4 months of age. In order of severity, the most affected muscles are psoas, quadriceps femoris, tibialis anterior, and gastrocnemius. Mice exhibit a decreased membrane repair capacity following laser wounding experiments. In an open space assay, mice cover less distance and are less active than wild-type. Mice that are homozygous for this allele are viable, fertile and normal in size. This mutant mouse strain may be useful as a model of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

This strain was made available with the assistance of the Jain Foundation.

Development
The progressive muscular dystrophy (prmd) allele was first identified as a strain characteristic of the A/J inbred strain at The Jackson Laboratory in 2004. The mutation was determined to be a retrotransposon insertion in intron 4 resulting in aberrant splicing and absence of the dysferlin protein. The prmd allele was introgressed into C57BL/6 in the laboratory of Dr. Isabelle Richard (Genethon), and the B6-congenic line was called Bl/AJ (BlAJ or Bla/J). The Bl/AJ strain was transferred to Dr. Douglas E. Albrecht of the Jain Foundation where the backcross generation reached N8. In collaboration with the Jain Foundation, Dr. Richard donated the Bl/AJ strain to The Jackson Laboratory Repository in 2010. Upon arrival, mice were bred to C57BL/6J for at least 2 generations to establish the colony.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Dysfprmd allele
000646   A/J
017917   B6.Cg-Dysfprmd Prkdcscid/J
View Strains carrying   Dysfprmd     (2 strains)

Strains carrying other alleles of Dysf
006830   129-Dysftm1Kcam/J
011128   B10.SJL-Dysfim/AwaJ
013149   B6.129-Dysftm1Kcam/J
017644   B6;129S6-Dysftm2.1Kcam/J
000686   SJL/J
View Strains carrying other alleles of Dysf     (5 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
Myopathy, Distal, with Anterior Tibial Onset; DMAT
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.

Dysfprmd/Dysfprmd

        A/J
  • behavior/neurological phenotype
  • abnormal physical strength   (MGI Ref ID J:92838)
  • limb grasping
    • hind-limb clasping develops after 8 months of age   (MGI Ref ID J:92838)
    • inability to spread legs when suspended by their tails after 8 months of age   (MGI Ref ID J:92838)
  • muscle phenotype
  • abnormal skeletal muscle morphology
    • perivascular infiltrates and inflammation seen by 8 months of age   (MGI Ref ID J:92838)
    • eventually, active myopathy was seen in all skeletal muscles   (MGI Ref ID J:92838)
    • abnormal skeletal muscle fiber morphology
      • abnormalities primarily in proximal muscles at early ages   (MGI Ref ID J:92838)
      • hypertrophic fibers, fiber splitting and fat replacement also seen   (MGI Ref ID J:92838)
      • centrally nucleated skeletal muscle fibers   (MGI Ref ID J:92838)
      • skeletal muscle fiber degeneration
        • fibers with scattered degenerating and regenerating fibers by 4-5 months of age   (MGI Ref ID J:92838)
      • skeletal muscle fiber necrosis
        • increased numbers of necrotic and regenerating fibers with time   (MGI Ref ID J:92838)
    • skeletal muscle endomysial fibrosis
      • endomysial fibrosis at later stages   (MGI Ref ID J:92838)
  • homeostasis/metabolism phenotype
  • skeletal muscle endomysial fibrosis
    • endomysial fibrosis at later stages   (MGI Ref ID J:92838)
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 Dysfprmd
Allele Name progressive muscular dystrophy
Allele Type Spontaneous
Mutation Made By Douglas Albrecht,   Jain Foundation Inc
Strain of OriginA/J
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 retrotransposon insertion occurred within intron 4, causing aberrant splicing of the gene. Protein was abolished as shown by Northern blot and immunoblot analysis. The insertion was 6000bp in size. This allele was found only in A/J mice, not in A/WySnJ, A/HeJ, C57BL/6J, SJL/J, SWR/J or 129/SvJ mice. [MGI Ref ID J:149430] [MGI Ref ID J:149432] [MGI Ref ID J:92838]

Genotyping

Genotyping Information

Genotyping Protocols

Dysfprmd, High Resolution Melting
Dysfprmd, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Lostal W; Bartoli M; Bourg N; Roudaut C; Bentaib A; Miyake K; Guerchet N; Fougerousse F; McNeil P; Richard I. 2010. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet :. [PubMed: 20154340]  [MGI Ref ID J:158933]

Additional References

Dysfprmd related

Biondi O; Villemeur M; Marchand A; Chretien F; Bourg N; Gherardi RK; Richard I; Authier FJ. 2013. Dual effects of exercise in dysferlinopathy. Am J Pathol 182(6):2298-309. [PubMed: 23624156]  [MGI Ref ID J:198822]

Burr AR; Millay DP; Goonasekera SA; Park KH; Sargent MA; Collins J; Altamirano F; Philipson KD; Allen PD; Ma J; Lopez JR; Molkentin JD. 2014. Na+ dysregulation coupled with Ca2+ entry through NCX1 promotes muscular dystrophy in mice. Mol Cell Biol 34(11):1991-2002. [PubMed: 24662047]  [MGI Ref ID J:212146]

Chase TH; Cox GA; Burzenski L; Foreman O; Shultz LD. 2009. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B. Am J Pathol 175(6):2299-308. [PubMed: 19875504]  [MGI Ref ID J:155340]

Concepcion D; Flores-Garcia L; Hamilton BA. 2009. Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. PLoS Genet 5(5):e1000484. [PubMed: 19436707]  [MGI Ref ID J:149430]

Demonbreun AR; Fahrenbach JP; Deveaux K; Earley JU; Pytel P; McNally EM. 2011. Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy. Hum Mol Genet 20(4):779-89. [PubMed: 21127009]  [MGI Ref ID J:168708]

Diaz-Manera J; Touvier T; Dellavalle A; Tonlorenzi R; Tedesco FS; Messina G; Meregalli M; Navarro C; Perani L; Bonfanti C; Illa I; Torrente Y; Cossu G. 2010. Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. Cell Death Dis 1:e61. [PubMed: 21364666]  [MGI Ref ID J:186461]

Farini A; Sitzia C; Navarro C; D'Antona G; Belicchi M; Parolini D; Del Fraro G; Razini P; Bottinelli R; Meregalli M; Torrente Y. 2012. Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model. Exp Cell Res 318(10):1160-74. [PubMed: 22465227]  [MGI Ref ID J:186460]

Grounds MD; Terrill JR; Radley-Crabb HG; Robertson T; Papadimitriou J; Spuler S; Shavlakadze T. 2014. Lipid accumulation in dysferlin-deficient muscles. Am J Pathol 184(6):1668-76. [PubMed: 24685690]  [MGI Ref ID J:210966]

Ho M; Post CM; Donahue LR; Lidov HG; Bronson RT; Goolsby H; Watkins SC; Cox GA; Brown RH Jr. 2004. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 13(18):1999-2010. [PubMed: 15254015]  [MGI Ref ID J:92838]

Hosur V; Kavirayani A; Riefler J; Carney LM; Lyons B; Gott B; Cox GA; Shultz LD. 2012. Dystrophin and dysferlin double mutant mice: a novel model for rhabdomyosarcoma. Cancer Genet 205(5):232-41. [PubMed: 22682622]  [MGI Ref ID J:200127]

Kerr JP; Ziman AP; Mueller AL; Muriel JM; Kleinhans-Welte E; Gumerson JD; Vogel SS; Ward CW; Roche JA; Bloch RJ. 2013. Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane. Proc Natl Acad Sci U S A 110(51):20831-6. [PubMed: 24302765]  [MGI Ref ID J:205500]

Krajacic P; Pistilli EE; Tanis JE; Khurana TS; Lamitina ST. 2013. FER-1/Dysferlin promotes cholinergic signaling at the neuromuscular junction in C. elegans and mice. Biol Open 2(11):1245-52. [PubMed: 24244862]  [MGI Ref ID J:205201]

Laure L; Suel L; Roudaut C; Bourg N; Ouali A; Bartoli M; Richard I; Daniele N. 2009. Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling. FEBS J 276(3):669-84. [PubMed: 19143834]  [MGI Ref ID J:147891]

Lostal W; Bartoli M; Roudaut C; Bourg N; Krahn M; Pryadkina M; Borel P; Suel L; Roche JA; Stockholm D; Bloch RJ; Levy N; Bashir R; Richard I. 2012. Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS One 7(5):e38036. [PubMed: 22666441]  [MGI Ref ID J:187293]

Millay DP; Maillet M; Roche JA; Sargent MA; McNally EM; Bloch RJ; Molkentin JD. 2009. Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. Am J Pathol 175(5):1817-23. [PubMed: 19834057]  [MGI Ref ID J:154690]

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]

Roche JA; Lovering RM; Roche R; Ru LW; Reed PW; Bloch RJ. 2010. Extensive mononuclear infiltration and myogenesis characterize recovery of dysferlin-null skeletal muscle from contraction-induced injuries. Am J Physiol Cell Physiol 298(2):C298-312. [PubMed: 19923419]  [MGI Ref ID J:157507]

Spector I; Zilberstein Y; Lavy A; Genin O; Barzilai-Tutsch H; Bodanovsky A; Halevy O; Pines M. 2013. The involvement of collagen triple helix repeat containing 1 in muscular dystrophies. Am J Pathol 182(3):905-16. [PubMed: 23274062]  [MGI Ref ID J:193271]

Uaesoontrachoon K; Cha HJ; Ampong B; Sali A; Vandermeulen J; Wei B; Creeden B; Huynh T; Quinn J; Tatem K; Rayavarapu S; Hoffman EP; Nagaraju K. 2013. The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. J Pathol 231(2):199-209. [PubMed: 23857504]  [MGI Ref ID J:201914]

Zhang Y; Maksakova IA; Gagnier L; van de Lagemaat LN; Mager DL. 2008. Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements. PLoS Genet 4(2):e1000007. [PubMed: 18454193]  [MGI Ref ID J:149432]

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* $2525.00
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* $3283.00
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.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  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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