Phenotypes Associated with This Genotype

Genotype
MGI:5908986

• Allelic Composition: Tg(Myh6-Tnnt2*R92L)1Jcf/0
• Genetic Background: B6.Cg-Tg(Myh6-Tnnt2*R92L)1Jcf

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

cardiovascular system

abnormal heart morphology ( J:104369 )

• adult hearts show myocyte disarray and degeneration, mild inflammatory cell infiltration, occasional hypertrophied cells, and minimal fibrosis

abnormal myocardial fiber morphology ( J:104369 )

• isolated myofilament lysis and discontinuity in adult ventricular myocytes

myocardial fiber degeneration ( J:104369 )

• adult hearts show myocyte degeneration

increased heart atrium size ( J:104369 )

• severe biatrial enlargement

abnormal heart ventricle morphology ( J:104369 )

• ventricular mass is increased by 8-9% in 6 month old mice

decreased cardiac muscle contractility ( J:104369 )

• hearts exhibit impaired systolic performance at baseline and with inotropic challenge

decreased cardiac muscle relaxation ( J:104369 )

• diastolic function, as indicated by increases in end-diastolic pressure and decreases in the rate of relaxation, is impaired

decreased left ventricle systolic pressure ( J:104369 )

• left ventricular systolic pressure and the rate of pressure development (+dP/dt) are lower in response to increasing calcium concentrations

cardiomyopathy ( J:104369 )

• cardiomyopathy characterized by severe biatrial enlargement and decrease in ventricular compliance

• mice do not exhibit induction of the hypertrophic gene program until late adulthood (about 10 months) and late remodeling, indicating development of a late onset, mild to moderate concentric hypertrophy

muscle

abnormal myocardial fiber morphology ( J:104369 )

• isolated myofilament lysis and discontinuity in adult ventricular myocytes

myocardial fiber degeneration ( J:104369 )

• adult hearts show myocyte degeneration

decreased cardiac muscle contractility ( J:104369 )

• hearts exhibit impaired systolic performance at baseline and with inotropic challenge

decreased cardiac muscle relaxation ( J:104369 )

• diastolic function, as indicated by increases in end-diastolic pressure and decreases in the rate of relaxation, is impaired

cardiomyopathy ( J:104369 )

• cardiomyopathy characterized by severe biatrial enlargement and decrease in ventricular compliance

• mice do not exhibit induction of the hypertrophic gene program until late adulthood (about 10 months) and late remodeling, indicating development of a late onset, mild to moderate concentric hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 2		DOID:0110308	OMIM:115195	J:104369