Phenotypes Associated with This Genotype

Genotype
MGI:2656180

• Allelic Composition: Itgb1^tm1Ross/Itgb1^tm1Ross; Myl2^tm1(cre)Krc/Myl2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:82534 )

• after 7 days of aortic constriction, only 53% of mutants survive compared to 88% of controls

cardiovascular system

liver vascular congestion ( J:82534 )

• show liver congestion at about 6 months of age

abnormal myocardium layer morphology ( J:82534 )

• myocardium shows focal dissolution of myofibrils and intercalated disks as well as mitochondrial swelling, with disruption and loss of cristae

abnormal myocardial fiber morphology ( J:82534 )

• heart sections show disruption of myocyte cell membrane integrity

increased heart atrium size ( J:82534 )

• enlarged at around 6 months of age

abnormal heart ventricle morphology ( J:82534 )

• calcification within the ventricular wall at about 6 months of age

thick ventricular wall ( J:82534 )

• at 6 months of age

cardiac fibrosis ( J:82534 )

• adults develop patchy fibrosis in the ventricular wall

• hearts show replacement fibrosis at around 6 months of age

dilated heart ( J:82534 )

• dilation at about 6 months of age

dilated heart left ventricle ( J:82534 )

• at 6 months of age

dilated heart right ventricle ( J:82534 )

• at 6 months of age

dilated cardiomyopathy ( J:82534 )

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium

decreased heart left ventricle muscle contractility ( J:82534 )

• contractility of the left ventricle is impaired at 5 weeks of age, however left ventricular end-diastolic pressure and heart rate do not vary from controls

abnormal cardiac muscle relaxation ( J:82534 )

• relaxation of the left ventricle is impaired at 5 weeks of age

increased response of heart to induced stress ( J:82534 )

• hemodynamic loading imposed by 7 days of transverse aortic constriction shows that mutants are intolerant of this stress as they have 53% survival versus 88% in controls

congestive heart failure ( J:82534 )

• show signs of congestive heart failure when reach about 6 months of age, including pleural effusions and liver congestion

homeostasis/metabolism

increased response of heart to induced stress ( J:82534 )

• hemodynamic loading imposed by 7 days of transverse aortic constriction shows that mutants are intolerant of this stress as they have 53% survival versus 88% in controls

abnormal atrial thrombosis ( J:82534 )

• hearts show thrombi in enlarged atria at around 6 months of age

pleural effusion ( J:82534 )

• show pleural effusions at about 6 months of age

liver/biliary system

liver vascular congestion ( J:82534 )

• show liver congestion at about 6 months of age

muscle

abnormal myocardium layer morphology ( J:82534 )

• myocardium shows focal dissolution of myofibrils and intercalated disks as well as mitochondrial swelling, with disruption and loss of cristae

abnormal myocardial fiber morphology ( J:82534 )

• heart sections show disruption of myocyte cell membrane integrity

dilated cardiomyopathy ( J:82534 )

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium

decreased heart left ventricle muscle contractility ( J:82534 )

• contractility of the left ventricle is impaired at 5 weeks of age, however left ventricular end-diastolic pressure and heart rate do not vary from controls

abnormal cardiac muscle relaxation ( J:82534 )

• relaxation of the left ventricle is impaired at 5 weeks of age

respiratory system

pleural effusion ( J:82534 )

• show pleural effusions at about 6 months of age

cellular

abnormal cardiac muscle cell glucose uptake ( J:82534 )

• display abnormal glucose metabolism in the ventricular tissue with patchy uptake of fluorodeoxyglucose (FDG) throughout the ventricular myocardium