Phenotypes Associated with This Genotype

Genotype
MGI:3618464

• Allelic Composition: Sgcd^tm1Kcam/Sgcd^tm1Kcam
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:57107 )

• during a treadmill stress test at 2-3 months of age, about 1/3 of homozygotes died suddenly during the exercise

premature death ( J:57107 )

• increase in the number of spontaneous deaths at around 6 months of age

cardiovascular system

abnormal heart morphology ( J:57107 )

coronary artery stenosis ( J:57107 )

• coronary vessels show multiple constrictions with pre- and poststenotic dilations as well as narrow vessels with a serrated rather than smooth contour

myocardium necrosis ( J:57107 )

• 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

dilated heart ventricle ( J:57107 )

• severe dilation of the heart ventricle

cardiac fibrosis ( J:57107 )

• fibrosis is seen in older mice (5-6 months)

dystrophic cardiac calcinosis ( J:57107 )

• exhibit granular calcium deposits in myocytes at 3 months of age

abnormal cardiovascular system physiology ( J:57107 )

decreased QRS amplitude ( J:57107 )

• ventricular excitation (QRS amplitude and duration) is perturbed, with significantly smaller QRS amplitudes, however resting heart rate and PR intervals are normal

cardiomyopathy ( J:57107 )

• 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

dilated cardiomyopathy ( J:57107 )

muscle

myocardium necrosis ( J:57107 )

• 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

cardiomyopathy ( J:57107 )

• 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

dilated cardiomyopathy ( J:57107 )

skeletal muscle necrosis ( J:57107 )

• 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

dystrophic muscle ( J:57107 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2F		DOID:0110280	OMIM:601287	J:57107
dilated cardiomyopathy 1L		DOID:0110436	OMIM:606685	J:57107