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Phenotypes Associated with This Genotype
Genotype
MGI:3618464
Allelic
Composition
Sgcdtm1Kcam/Sgcdtm1Kcam
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sgcdtm1Kcam mutation (1 available); any Sgcd mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• during a treadmill stress test at 2-3 months of age, about 1/3 of homozygotes died suddenly during the exercise
• increase in the number of spontaneous deaths at around 6 months of age

cardiovascular system
• coronary vessels show multiple constrictions with pre- and poststenotic dilations as well as narrow vessels with a serrated rather than smooth contour
• progressive development of myocardial necrosis
• treadmill exercise at 2-3 months of age (when no signs of cardiac muscle necrosis are seen) initiates the development of cardiac muscle necrosis
• administration of a vascular smooth muscle relaxant prevents onset of myocardial necrosis
• severe dilation of the heart ventricle
• fibrosis is seen in older mice (5-6 months)
• exhibit granular calcium deposits in myocytes at 3 months of age
• ventricular excitation (QRS amplitude and duration) is perturbed, with significantly smaller QRS amplitudes, however resting heart rate and PR intervals are normal
• develop severe cardiomyopathy after the age of 3 months, with focal areas of myocardial ischemic-like lesions followed by fibrotic calcification and scarring of tissue
• females that have been pregnant at least once display more widespread and advanced cardiac alterations than virgin females

muscle
• develop severe cardiomyopathy after the age of 3 months, with focal areas of myocardial ischemic-like lesions followed by fibrotic calcification and scarring of tissue
• females that have been pregnant at least once display more widespread and advanced cardiac alterations than virgin females
• exhibit various stages of necrosis or regeneration
• large regions of necrosis/regeneration in the calf and thigh muscles are seen at all ages, while severe necrotic lesions in the diaphragm are seen at 1 month of age
• exhibit severe muscular dystrophy
• dystrophic changes include severe necrotic/regenerative lesions, endomysial fibrosis, fiber splitting, hypertrophy, dystrophic calcification, fatty infiltration, and increased levels of creatine kinase


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
09/13/2016
MGI 6.05
The Jackson Laboratory