Strain Detail Sheet

Phenotype:
Homozygous phenotype: Only known mutation is replacement of exons three to six with phosphoglycerate kinase promoter/neomysin phosphotransferase cDNA.

Heterozygous 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.

Sgcb^tm1Kcam/Sgcb^tm1Kcam

        involves: 129S1/Sv * 129X1/SvJ

• muscle phenotype
  • abnormal muscle morphology (MGI Ref ID J:60154)
    • homozygotes exhibit loss of the sarcoglycan-sarcospan complex, the dystroglycan complex, and epsilon-sarcoglycan in skeletal, cardiac, and smooth muscles
    • abnormal sarcolemma morphology (MGI Ref ID J:60154)
      • at 9 weeks, homozygotes display uptake of Evans blue dye in various skeletal muscles, indicating compromised sarcolemma integrity
    • abnormal vascular smooth muscle morphology (MGI Ref ID J:60154)
      • homozygotes display loss of the sarcoglycan-sarcospan complex in vascular smooth muscles leading to vascular perturbation, exaggeration of the muscular dystrophy and initiation of cardiomyopathy
    • muscle calcification (MGI Ref ID J:60154)
      • as early as 4 weeks, homozygotes exhibit progressive dystrophic calcification in the calf, thigh, and diaphragm muscles
    • muscular atrophy (MGI Ref ID J:60154)
      • dystrophic muscle (MGI Ref ID J:60154)
        • as early as 4 weeks, homozygotes exhibit progressive dystrophic changes in calf, thigh, and diaphragm muscles including pronounced areas of focal necrosis, dystrophic calcification, endomysial fibrosis, massive fatty infiltration, extensive central nucleation, fiber splitting and hypertrophy
        • consistent with severe muscular dystrophy, 13-16-wk-old homozygotes exhibit increased serum creatine kinase activity
  • cardiomyopathy (MGI Ref ID J:60154)
    • homozygotes develop significant cardio myopathy with extensive regions of necrosis, similar to morphological changes noted in tissue infarcts
• cardiovascular system phenotype
  • abnormal blood vessel morphology (MGI Ref ID J:60154)
    • at 4 weeks, vessels of the mutant heart and diaphragm display a serrated contour, rather than the smoothly tapered vessel walls observed in wild-type mice
    • abnormal vascular smooth muscle morphology (MGI Ref ID J:60154)
      • homozygotes display loss of the sarcoglycan-sarcospan complex in vascular smooth muscles leading to vascular perturbation, exaggeration of the muscular dystrophy and initiation of cardiomyopathy
    • vascular stenosis (MGI Ref ID J:60154)
      • homozygotes display numerous areas of vascular constrictions often associated with pre- and poststenotic aneurysms in the vasculature of diaphragm, heart, and kidneys
      • vascular constrictions are detected prior to the onset of necrotic changes
  • aneurysm (MGI Ref ID J:60154)
    • homozygotes exhibit multiple pre- and poststenotic aneurysms in vessels of the diaphragm, heart, and kidneys
  • cardiac fibrosis (MGI Ref ID J:60154)
    • at 30 weeks, mutant hearts exhibit widespread areas of fibrosis
  • cardiomyopathy (MGI Ref ID J:60154)
    • homozygotes develop significant cardiomyopathy with extensive regions of necrosis, similar to morphological changes noted in tissue infarcts
  • myocardial necrosis (MGI Ref ID J:60154)
    • as early as 9 weeks, mutant hearts display small necrotic areas
    • at 20 weeks, focal necrotic areas resembling ischemic-like lesions are observed throughout the right and left ventricles; however, active myocardial necrosis is less prominent at 30 weeks

Founder genetic background: 129xC57BL/6

Strain genetic background: C57BL/6J

Strain Development:
Original mouse on BL6/129 background. Since then they have been backcrossed 5 times onto C57/BL6.

Donor: Kevin P. Campbell, Ph.D., Howard Hughes Medical Institute

Primary Reference:

Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell. 2000 Jan;5(1):141-51. (Medline PMID: 10678176)

Mice with decreased mobility may benefit from gruel as food/water source.

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.) Request this Strain
MMRRC Item # Description	Distribution Fee/unit (US $)	Units	Notes
010773-MU-RESUS Litter recovered from cryo-archive	$2,022.00 Non-Profit	Litter	Recovered litter1; additional fees for any special requests.
010773-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.