Phenotypes Associated with This Genotype

Genotype
MGI:3037209

• Allelic Composition: Myl2^tm1(cre)Krc/Myl2⁺; Srsf2^tm1Xdfu/Srsf2^tm1Xdfu
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

pregnancy-related premature death ( J:88432 )

• life span is normal except that pregnancy-induced mortality is seen

cardiovascular system

cardiovascular system phenotype ( J:88432 )

N • deletion had little affect on cardiomyocyte proliferation or viability

N • mutants have a normal heart rate, interventricular septum thickness, and left ventricular posterior wall thickness

cardiac interstitial fibrosis ( J:88432 )

• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice

dilated cardiomyopathy ( J:88432 )

• mutant hearts appear normal initially and become enlarged 5 weeks after birth

• increasing workload and stress results in manifestation of a latent defect in cardiac function

decreased heart ventricle muscle contractility ( J:88432 )

• mutants have a severe contraction defect

• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced

• in isolated cardiomyocytes resting intracellular and diastolic Ca²⁺ is normal however, with increasing pacing frequencies a significant decrease in both Ca²⁺ transients and cell contraction are detected

• defects in Ca²⁺ relaxation kinetics and reduced Ca²⁺ transients would weaken the excitation-contraction coupling in response to increasing workload

decreased heart left ventricle muscle contractility ( J:88432 )

• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth

muscle

dilated cardiomyopathy ( J:88432 )

• mutant hearts appear normal initially and become enlarged 5 weeks after birth

• increasing workload and stress results in manifestation of a latent defect in cardiac function

decreased heart ventricle muscle contractility ( J:88432 )

• mutants have a severe contraction defect

• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced

• in isolated cardiomyocytes resting intracellular and diastolic Ca²⁺ is normal however, with increasing pacing frequencies a significant decrease in both Ca²⁺ transients and cell contraction are detected

• defects in Ca²⁺ relaxation kinetics and reduced Ca²⁺ transients would weaken the excitation-contraction coupling in response to increasing workload

decreased heart left ventricle muscle contractility ( J:88432 )

• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth

cellular

cardiac interstitial fibrosis ( J:88432 )

• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice