Phenotypes Associated with This Genotype

Genotype
MGI:3710679

• Allelic Composition: Rb1^tm2Brn/Rb1^tm2Brn; Rbl2^tm1Tyj/Rbl2^tm1Tyj; Tg(Myh6-cre)2182Mds/Tg(Myh6-cre)2182Mds
• Genetic Background: involves: 129 * 129S2/SvPas * FVB/N

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

mortality/aging

premature death ( J:97589 )

• 36% die suddenly by 12 weeks of age and only 48% survive to 6 months of age

cardiovascular system

increased myocardial fiber size ( J:97589 )

• cardiomyocytes have an increase in diameter and contain large, hyperchromatic nuclei

enlarged heart ( J:97589 )

• mutants exhibit a 3-fold increase in the heart weight-to-body weight ratio at 8 weeks of age but not in the neonatal time period

dilated heart left ventricle ( J:97589 )

• mutants surviving to 12 weeks of age show evidence of LV dilation

decreased heart left ventricle muscle contractility ( J:97589 )

• end-diastolic diameter and end-systolic diameter are increased and left ventricular fractional shortening and circumferential shortening velocity are decreased in mutants surviving to 12 seeks of age, indicating left ventricular systolic dysfunction

decreased heart rate ( J:97589 )

• seen in mutants surviving to 12 weeks of age

abnormal myocardial fiber physiology ( J:97589 )

• hearts exhibit persistent myocyte cycling

respiratory system

respiratory distress ( J:97589 )

• 36% develop signs of respiratory distress

homeostasis/metabolism

edema ( J:97589 )

• 36% develop signs of generalized edema

muscle

increased myocardial fiber size ( J:97589 )

• cardiomyocytes have an increase in diameter and contain large, hyperchromatic nuclei

decreased heart left ventricle muscle contractility ( J:97589 )

• end-diastolic diameter and end-systolic diameter are increased and left ventricular fractional shortening and circumferential shortening velocity are decreased in mutants surviving to 12 seeks of age, indicating left ventricular systolic dysfunction

growth/size/body

enlarged heart ( J:97589 )

• mutants exhibit a 3-fold increase in the heart weight-to-body weight ratio at 8 weeks of age but not in the neonatal time period