Phenotypes Associated with This Genotype

Genotype
MGI:5908893

• Allelic Composition: Tg(Myh6-MYL2*E22K)4Dsc/0
• Genetic Background: involves: C57BL/6 * SJL

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

cardiovascular system

papillary muscle hypertrophy ( J:101467 )

• hearts exhibit enlarged papillary muscles of the left ventricles

• however, no myofibrillar disarray is seen and heart weight to body weight ratios are normal and do not indicate cardiac hypertrophy

abnormal interventricular septum muscular part morphology ( J:101467 )

• hearts exhibit enlarged interventricular septa muscle

abnormal myocardial fiber physiology ( J:101467 )

• myofibrils from ventricular, septal, and papillary muscles exhibit an increase in the calcium sensitivity of force

• however, no significant difference in the kinetics of calcium-dependent activation and calcium-dependent relaxation is seen in papillary muscle fibers

• echocardiography does not show any differences, with left ventricular chamber dimensions in systole and diastole, and ejection or shortening fractions similar to controls

muscle

papillary muscle hypertrophy ( J:101467 )

• hearts exhibit enlarged papillary muscles of the left ventricles

• however, no myofibrillar disarray is seen and heart weight to body weight ratios are normal and do not indicate cardiac hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 10		DOID:0110316	OMIM:608758	J:101467