Phenotypes Associated with This Genotype

Genotype
MGI:5908275

• Allelic Composition: Tg(Myh6*)1Lnwd/0
• Genetic Background: involves: C57BL/6 * FVB/N

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

cardiovascular system

abnormal heart morphology ( J:55938 )

♀ • hearts exhibit cellular hypertrophy, myocyte disorganization and small vessel pathology

disorganized myocardium ( J:55938 )

♀ • hearts exhibit myocyte disorganization

heart left ventricle hypertrophy ( J:55938 )

• heart mass is 40% greater than in wild-type mice at 10 months, but not 2 months of age, indicating development of cardiac hypertrophy

• hypertrophy is restricted to the left ventricle and is not seen in the right ventricle or atria

abnormal coronary vessel morphology ( J:55938 )

♀ • hearts exhibit small vessel pathology, with hypertrophied vessels in 10 week old mice

thick mitral valve ( J:55938 )

♀ • mitral valves are thickened with fibrous plaques, and frequent thrombus formation

abnormal tricuspid valve morphology ( J:55938 )

♀ • 1 of 6 mice show tricuspid valve pathology, involving the septal leaflet with a fibrous plaque on the right ventricular septal wall

thick ventricular wall ( J:55938 )

♀ • systolic anterior wall thickness is greater in 6 month old females

♀ • however, no hypertrophy of the posterior wall in systole or diastole is seen

decreased cardiac muscle relaxation ( J:55938 )

• ventricular myocytes exhibit reduced rates of relaxation after flash photolysis of diazo 2

abnormal heart echocardiography feature ( J:55938 )

♀ • echocardiograms of 6 month old females indicate asymmetric anterior wall hypertrophy

♀ • however, systolic function, as assessed by left ventricular shortening fraction, does not differ from wild-type mice

abnormal myocardial fiber physiology ( J:55938 )

• ventricular myocytes exhibit decreased calcium sensitivity of tension

homeostasis/metabolism

abnormal cardiac thrombosis ( J:55938 )

♀ • frequent thrombus formation in mitral valves

muscle

disorganized myocardium ( J:55938 )

♀ • hearts exhibit myocyte disorganization

heart left ventricle hypertrophy ( J:55938 )

• heart mass is 40% greater than in wild-type mice at 10 months, but not 2 months of age, indicating development of cardiac hypertrophy

• hypertrophy is restricted to the left ventricle and is not seen in the right ventricle or atria

decreased cardiac muscle relaxation ( J:55938 )

• ventricular myocytes exhibit reduced rates of relaxation after flash photolysis of diazo 2

growth/size/body

heart left ventricle hypertrophy ( J:55938 )

• heart mass is 40% greater than in wild-type mice at 10 months, but not 2 months of age, indicating development of cardiac hypertrophy

• hypertrophy is restricted to the left ventricle and is not seen in the right ventricle or atria

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 14		DOID:0110320	OMIM:613251	J:55938