Phenotypes Associated with This Genotype

Genotype
MGI:5755254

• Allelic Composition: Tg(Myh6-Tnnt2*R92Q)2Lnwd/0
• Genetic Background: involves: C57BL/6

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

cardiovascular system

perivascular fibrosis ( J:56911 )

abnormal myocardial fiber morphology ( J:56911 )

• myocytes exhibit lipid deposition and increased number of mitochondria with evidence of mitochondrial degeneration

decreased myocardial fiber size ( J:56911 )

• decrease in myocyte size, with mean area of myocytes about 18% smaller than controls

myocardial fiber degeneration ( J:56911 )

• varying degrees of myocellular degeneration

abnormal heart atrium morphology ( J:56911 )

• progressive atrial hypertrophy

cardiac hypertrophy ( J:56911 )

• progressive atrial hypertrophy

• hearts exhibit expression of hypertrophic markers

abnormal heart ventricle morphology ( J:56911 )

• ventricular mass decreases by about 18%

decreased heart left ventricle size ( J:56911 )

cardiac interstitial fibrosis ( J:56911 )

• hearts show small areas of myocardial fibrosis

abnormal cardiac muscle contractility ( J:56911 )

• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation

increased cardiac muscle contractility ( J:56911 )

• hearts subjected to a stepwise increase in cardiac workload exhibit hypercontractility

abnormal cardiac muscle relaxation ( J:56911 )

• impairment of diastolic function that is largely restricted to the early diastolic/late phase of relaxation (136% increase in Tau, the time constant of ventricular relaxation), whereas the initial fast phase of the diastolic pressure drop is unaffected, resulting in a prolongation of isovolumic relaxation

• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation

increased heart rate ( J:56911 )

• mice exhibit higher intrinsic heart rates

abnormal myocardial fiber physiology ( J:56911 )

• in the presence of 2,3-butanedionemonoxime (BDM) which disrupts force-producing cross-bridge formation, myocytes are longer and narrower indicating an increase in sarcomeric activation

• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation

heart inflammation ( J:56911 )

• mild inflammation in the heart

immune system

heart inflammation ( J:56911 )

• mild inflammation in the heart

muscle

abnormal myocardial fiber morphology ( J:56911 )

• myocytes exhibit lipid deposition and increased number of mitochondria with evidence of mitochondrial degeneration

decreased myocardial fiber size ( J:56911 )

• decrease in myocyte size, with mean area of myocytes about 18% smaller than controls

myocardial fiber degeneration ( J:56911 )

• varying degrees of myocellular degeneration

abnormal cardiac muscle contractility ( J:56911 )

• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation

increased cardiac muscle contractility ( J:56911 )

• hearts subjected to a stepwise increase in cardiac workload exhibit hypercontractility

abnormal cardiac muscle relaxation ( J:56911 )

• impairment of diastolic function that is largely restricted to the early diastolic/late phase of relaxation (136% increase in Tau, the time constant of ventricular relaxation), whereas the initial fast phase of the diastolic pressure drop is unaffected, resulting in a prolongation of isovolumic relaxation

• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation

abnormal sarcomere morphology ( J:56911 )

• sarcomere lengths are shorter in left ventricular myocytes

• however, sarcomeric structure is intact

growth/size/body

cardiac hypertrophy ( J:56911 )

• progressive atrial hypertrophy

• hearts exhibit expression of hypertrophic markers

cellular

cardiac interstitial fibrosis ( J:56911 )

• hearts show small areas of myocardial fibrosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 2		DOID:0110308	OMIM:115195	J:56911