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Phenotypes Associated with This Genotype
Genotype
MGI:3618527
Allelic
Composition
Sgcdtm1Mcn/Sgcdtm1Mcn
Genetic
Background
involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcdtm1Mcn mutation (1 available); any Sgcd mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• beginning at 8 weeks of age, begin to die suddenly
• premature mortality is also noted at 12, 16, and 28 weeks of age, with a 50% survival rate at 28 weeks of age

muscle
• all skeletal muscles show dystrophic changes
• regional degeneration and regeneration of muscle fibers is common and accompanied by an inflammatory infiltrate
• skeletal and cardiac muscle degeneration
• muscles exhibit pronounced Evans blue dye uptake, indicating alterations in membrane permeability of muscles
• beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate
• show a 42% drop in force generation over a five eccentric contraction protocol, however twich and tetanic force generation is normal

cardiovascular system
• frequent occurrence of perivascular fibrosis
• beginning at 12 weeks of age, observe signs of cardiac muscle degeneration as indicated by areas of cell death and inflammatory infiltrate

homeostasis/metabolism
• elevation in serum creatine kinase levels


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory