Phenotypes Associated with This Genotype

Genotype
MGI:6103873

• Allelic Composition: Tg(Myh6-CRYAB*R120G)7302Ijb/0
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:126781 )

• 100% mortality at 66 weeks of age

cardiovascular system

abnormal myocardium layer morphology ( J:126781 )

• large protein aggregates in myocardium

increased heart weight ( J:126781 )

• heart weight/body weight ratio is 33% greater than in non-transgenic mice at 6 months of age

cardiac hypertrophy ( J:126781 )

• cardiac hypertrophy by 6 months of age, with gross four-chamber enlargement

• markers of cardiac hypertrophy are increased in 3 and 6 month old mice

dilated heart ventricle ( J:126781 )

• severe ventricular remodeling with dilatation at end-stage

abnormal myocardial fiber physiology ( J:126781 )

• viability of isolated cardiomyocytes is decreased

cardiomyopathy ( J:126781 )

congestive heart failure ( J:126781 )

• progressive heart failure

• markers of congestive heart failure are increased in 3 and 6 month old mice

behavior/neurological

lethargy ( J:126781 )

• disease progression accelerates after 6 months, with increased lethargy

homeostasis/metabolism

increased glutathione level ( J:126781 )

• total reduced glutathione content in the heart is increased by about 2-fold and the amount of oxidized glutathione is 25% higher than in non-transgenic controls

abnormal atrial thrombosis ( J:126781 )

• biatrial thrombosis at 6 months of age

edema ( J:126781 )

• disease progression accelerates after 6 months, with increased systemic edema from fluid retention

abnormal enzyme/coenzyme activity ( J:126781 )

• enzymatic activity of glutathione reductase in hearts is increased at 6 months of age

increased glucose-6-phosphate dehydrogenase activity ( J:126781 )

• glucose-6-phosphate dehydrogenase enzyme activity in the heart is 2-fold greater than in controls at 2 months of age

increased catalase activity ( J:126781 )

• catalase activity is 50% higher in hearts than in non-transgenic controls

increased glutathione peroxidase activity ( J:126781 )

• glutathione peroxidase enzymatic activity is70% higher in hearts at 6 months of age

muscle

abnormal myocardium layer morphology ( J:126781 )

• large protein aggregates in myocardium

cardiomyopathy ( J:126781 )

growth/size/body

increased heart weight ( J:126781 )

• heart weight/body weight ratio is 33% greater than in non-transgenic mice at 6 months of age

cardiac hypertrophy ( J:126781 )

• cardiac hypertrophy by 6 months of age, with gross four-chamber enlargement

• markers of cardiac hypertrophy are increased in 3 and 6 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myofibrillar myopathy 2		DOID:0080093	OMIM:608810	J:126781