Strain Detail Sheet

Strain Name    :

B6.129-Dysftm1Kcam/Mmmh

Stock Number :

010317-MU

Gene Information

Gene Details [Including genotyping protocols]

(provided by MGI)
Allele Symbol: Dysftm1Kcam
Name: targeted mutation 1, Kevin P Campbell
Alteration at locus: Knockout
Gene Symbol: Dysf
Name: dysferlin
Chromosome: 6
Alteration at locus: Knockout

Genetic Alterations:
The targeting vector was constructed to delete the last three coding exons including the exons coding for the transmembrane domain of the dysferlin gene.

Genotype Determination:

ES Cell Line: R1 derived from 129 x C57BL/6 hybrid

Strain Description [Including phenotype, strain background, strain development and suggested control mice]

Phenotype

Homozygous phenotype: Dysferlin-null mice are viable and have a normal growth rate, but develop a progressive muscular dystrophy.

Heterozyous phenotype: Heterzygotes do not show any known morphological abnormalities.


Mammalian Phenotype Terms:(provided by MGI)      Extend all MPTs
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.
Dysftm1Kcam/Dysftm1Kcam
        involves: 129S1/Sv * 129X1/SvJ * C57BL/6
  • muscle phenotype
    • abnormal muscle regeneration (MGI Ref ID J:83126)
      • in response to sarcolemma injuries, mutant skeletal muscle fibers display sub-sarcolemmal vesicle accumulations, whereas wild-type damaged fibers exhibit only dysferlin-enriched membrane patches
      • unlike wild-type muscle fibres, mutant skeletal muscle fibres are defective in Ca2+-dependent sarcolemma resealing, indicating a disruption of the muscle membrane repair machinery
    • abnormal sarcolemma morphology (MGI Ref ID J:83126)
      • plasma membrane disruptions are identified with Evans blue by 8 months of age
      • however, minimal sarcolemma damage is detected in mutant muscle after exercise, indicating the presence of a functional dystrophin-glycoprotein complex (DGC) and stable sarcolemma
    • centrally nucleated skeletal muscle fibers (MGI Ref ID J:83126)
      • ~10% of all fibers in mutant skeletal muscle are centrally nucleated by 2 months of age, 20% by 4 months of age, and 48% and 65% by 8 and 10 months, respectively
    • dystrophic muscle (MGI Ref ID J:83126)
      • homozygotes develop a slowly progressive muscular dystrophy at the level of single muscle fibers, as evidenced by the presence of individual Evans-blue positive fibers
      • the % of centrally nucleated fibers increases with age, with a few individual necrotic and centrally nucleated fibers first evident at 2 months of age
      • by 8 months of age, dystrophic skeletal muscle exhibits regenerating fibers, split fibers, and muscle necrosis with macrophage infiltration, and fat replacement
      • the severity of muscle pathology varies in different skeletal muscles
    • increased variability of skeletal muscle fiber size (MGI Ref ID J:83126)
      • at 9 months of age, a significantly greater muscle fiber size variation is noted in mutant skeletal muscle than in wild-type muscle
    • skeletal muscle fiber degeneration (MGI Ref ID J:83126)
      • active skeletal muscle regeneration occurs in response to muscle degeneration, as evidenced by the presence of centrally nucleated skeletal muscle fibers and increased variability in fiber size
    • skeletal muscle fiber necrosis (MGI Ref ID J:83126)
      • significant skeletal muscle necrosis with macrophage infiltration and fat replacement is evident by 8 months of age
  • homeostasis/metabolism phenotype
    • increased circulating creatine kinase level (MGI Ref ID J:83126)
      • homozygotes exhibit a several-fold increase in serum creatine kinase levels relative to wild-type mice

Strain of Origin: 129xC57BL/6

Strain genetic background: C57BL/6

Suggested Control Mice:

  • Wildtype littermates

Research Applications

  • Cardiovascular
  • Cell Biology
  • Developmental Biology
  • Models for Human Disease

Strain Origin

Donor: Kevin P. Campbell, Ph.D., University of Iowa

Primary Reference:

Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003 May 8;423(6936):168-72. (Medline PMID: 12736685)

Colony and Husbandry Information

Special Considerations

Sometimes teeth need to be clipped due to malocclusion of teeth. May need to gruel pups up to 2 weeks after weaning or as needed.

Health Status Report

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Conditions of Distribution [Including applicable technology transfer agreements]

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

The donor or their institution limits the distribution to non-profit institutions only.

Fees

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # - Description Distribution
Fee/unit (US $)
Units Notes
010317-MU-RESUSLitter recovered from cryo-archive
$2,022.00
Non-Profit
Litter Recovered litter1; additional fees for any special requests.
010317-MU-SPERMCryo-preserved spermatozoa
$437.00
Non-Profit
Aliquot Approximate quantity.2

1 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

3 An aliquot contains a sufficient number of embryos (in one or more vials and based on the transfer success rate of the MMRRC facility) to transfer to at least two recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section above). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.



The MMRRC is a collaborative effort, funded by grants from DPCPSI of the NIH.

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