Phenotypes Associated with This Genotype

Genotype
MGI:5908514

• Allelic Composition: Tg(Myh6-Mybpc3*)24Rbns/0
• Genetic Background: Not Specified

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

cardiovascular system

abnormal heart morphology ( J:59702 )

• adult hearts appear globose

abnormal myocardial fiber mitochondrial morphology ( J:59702 )

• mitochondrial abnormalities in cardiomyocytes with both the numbers and organization showing alterations in 35 week old mice and as early as 12 weeks of age

increased heart weight ( J:59702 )

• increase in heart weight/body weight ratios in 50 week old mice, with an approximate 20% increase by 12 months

cardiac hypertrophy ( J:59702 )

• mild hypertrophy in the papillary muscle and the left ventricular free wall in adult hearts

decreased heart rate ( J:59702 )

• heart rates in response to exercise are decreased

• however, no arrhythmias are seen during or after exercise

abnormal myocardial fiber physiology ( J:59702 )

• skinned fibers from the left ventricular papillary muscles of young adults show decreased maximal unloading shortening velocity and decreased maximal relative power output

• however, hearts exhibit unchanged cardiac work, time to peak pressure, relaxation, and contractility

behavior/neurological

impaired exercise endurance ( J:59702 )

• mice exhibit impaired exercise capacity, with decreased heart rates in response to exercise

homeostasis/metabolism

impaired exercise endurance ( J:59702 )

• mice exhibit impaired exercise capacity, with decreased heart rates in response to exercise

muscle

abnormal myocardial fiber mitochondrial morphology ( J:59702 )

• mitochondrial abnormalities in cardiomyocytes with both the numbers and organization showing alterations in 35 week old mice and as early as 12 weeks of age

abnormal sarcomere morphology ( J:59702 )

• cardiac sarcomere arrangements are altered, with sarcomeres out of register with each other and the normal pattern disrupted, in 35 week old mice and as early as 12 weeks of age

abnormal Z line morphology ( J:59702 )

• Z lines do not retain their normal arrangements between the cardiac sarcomeric rows

cellular

abnormal myocardial fiber mitochondrial morphology ( J:59702 )

• mitochondrial abnormalities in cardiomyocytes with both the numbers and organization showing alterations in 35 week old mice and as early as 12 weeks of age

growth/size/body

increased heart weight ( J:59702 )

• increase in heart weight/body weight ratios in 50 week old mice, with an approximate 20% increase by 12 months

cardiac hypertrophy ( J:59702 )

• mild hypertrophy in the papillary muscle and the left ventricular free wall in adult hearts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:59702