Phenotypes Associated with This Genotype

Genotype
MGI:5909888

• Allelic Composition: Mybpc3^tm2.1Lcrr/Mybpc3^tm2.1Lcrr
• Genetic Background: involves: 129S2/SvPasCrl * Black Swiss

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

cardiovascular system

heart left ventricle hypertrophy ( J:185726 )

• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy

decreased cardiac muscle contractility ( J:185726 )

• hearts exhibit reduced fractional shortening

abnormal cardiac muscle relaxation ( J:185726 )

• mice exhibit diastolic dysfunction as evidenced by reduced peak early/late (E/A) blood flow velocity ratio through the mitral valve and peak early/late (E'/A') diastolic velocity ratio measured at the septal corner of the mitral annulus and higher E/E' ratio

abnormal heart echocardiography feature ( J:185726 )

• echocardiography indicates increased left ventricular mass-to-body weight ratio and decreased fractional shortening

abnormal myocardial fiber physiology ( J:185726 )

• skinned ventricular trabeculae exhibit higher myofilament calcium sensitivity

• cardiac myocytes exhibit lower amplitudes of twitch (sarcomere shortening) and calcium transients in response to increasing pacing frequency

• myocytes exhibit lower diastolic sarcomere length

• myocyte relaxation begins at a lower intracellular concentration of calcium than in controls

• intact myocytes exhibit faster decay of calcium transients

muscle

heart left ventricle hypertrophy ( J:185726 )

• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy

decreased cardiac muscle contractility ( J:185726 )

• hearts exhibit reduced fractional shortening

abnormal cardiac muscle relaxation ( J:185726 )

• mice exhibit diastolic dysfunction as evidenced by reduced peak early/late (E/A) blood flow velocity ratio through the mitral valve and peak early/late (E'/A') diastolic velocity ratio measured at the septal corner of the mitral annulus and higher E/E' ratio

growth/size/body

heart left ventricle hypertrophy ( J:185726 )

• left ventricular mass-to-body weight ratio is increased indicating left ventricular hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:185726