Phenotypes Associated with This Genotype

Genotype
MGI:5904627

• Allelic Composition: Tg(Myh6-MYL2*N47K)#Dsc/0
• Genetic Background: involves: C57BL/6 * SJL

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

cardiovascular system

abnormal myocardial fiber morphology ( J:144685 )

• myofibrillar disarray and some abnormal clustering of nuclei in the hearts of older mice

enlarged heart ( J:144685 )

• hearts are larger than in Tg(Myh6-MYL7*R58Q)#Dsc /0 mice

abnormal cardiovascular system physiology ( J:162200 )

♂ • decrease in cardiac function in isolated perfused working hearts

♂ • cardiac output, cardiac work, and cardiac power are decreased in aerobically perfused and spontaneously beating hearts

decreased cardiac output ( J:162200 )

♂ • cardiac output is decreased in aerobically perfused and spontaneously beating hearts

abnormal diastolic filling velocity ( J:162200 )

♂ • 20% increase in inter-ventricular septal thickness in diastole and left ventricular posterior wall thickness in diastole at 8 months of age

abnormal myocardial fiber physiology ( J:144685 )

• maximal ATPase activity is 1.2-fold lower in papillary muscle fibers

• the duration of calcium concentration transients in electrically stimulated intact papillary muscles is prolonged

• however, papillary muscle fibers show no change in force transients

muscle

abnormal myocardial fiber morphology ( J:144685 )

• myofibrillar disarray and some abnormal clustering of nuclei in the hearts of older mice

growth/size/body

enlarged heart ( J:144685 )

• hearts are larger than in Tg(Myh6-MYL7*R58Q)#Dsc /0 mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 10		DOID:0110316	OMIM:608758	J:162200