Strain Detail Sheet

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:
      assigned by genotype

The following phenotype information may relate to one or more alleles on a genetic background differing from this MMRRC strain.

Dysf^tm1Kcam/Dysf^tm1Kcam

• 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 Type:

Founder genetic background: 129xC57BL/6

Strain genetic background: C57BL/6

Strain Development:

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

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)

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.

* 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-RESUS Litter recovered from cryo-archive	$2,022.00 Non-Profit	Litter	Recovered litter1; additional fees for any special requests.
010317-MU-SPERM Cryo-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 breedable 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 contains sufficient material (volume and concentration) for at least two IVF or several artificial inseminations (based on our procedures). The MMRRC makes no guarantee concerning 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.