Phenotypes Associated with This Genotype

Genotype
MGI:3530447

• Allelic Composition: Myl2^tm1(cre)Krc/Myl2⁺; Srsf1^tm1Xdfu/Srsf1^tm1Xdfu
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

premature death ( J:96039 )

• homozygous mice die between 6-8 weeks after birth from the heart malfunction with a sex difference (males more severely affected then females)

cardiovascular system

abnormal myocardial fiber morphology ( J:96039 )

cardiac hypertrophy ( J:96039 )

decreased heart left ventricle posterior wall thickness ( J:96039 )

• thinner posterior wall of the left ventricle

cardiac fibrosis ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

decreased heart rate ( J:96039 )

muscle

abnormal myocardial fiber morphology ( J:96039 )

dilated cardiomyopathy ( J:96039 )

• seen 6-7 weeks after birth

abnormal cardiac muscle contractility ( J:96039 )

• cardiomyocytes have fuzzy z-lines and shortened sarcomeres that appear locked in the contracted state

• severe excitation-contraction coupling defect causing a hypercontraction phenotype at the single cell level

growth/size/body

cardiac hypertrophy ( J:96039 )