Mouse Genome Informatics
hm
    Sgcdtm1Mcn/Sgcdtm1Mcn
involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• frequent occurrence of perivascular fibrosis
• elevation in serum creatine kinase levels

Mouse Models of Human Disease
OMIM IDRef(s)
Cardiomyopathy, Dilated, 1L; CMD1L 606685 J:76730
Muscular Dystrophy, Limb-Girdle, Type 2F; LGMD2F 601287 J:76730