mortality/aging
• no hemizygous male that serves as a stud survived more than 13 months
|
cardiovascular system
• neonatal and adult hearts show myocellular disorganization and degeneration
|
• exhibit about 8-10% fewer myocytes than controls
|
• mean length and midpoint width of quiescent ventricular cardiac myocytes are 15 and 13% smaller, respectively, than in controls and mean myocyte area is decreased by 17%
|
• neonatal and adult hearts show myocellular degeneration
|
• neonatal and adult hearts show myocellular disorganization
|
• exhibit atrial wall thickening
|
• exhibit early dilatation of the atria
|
• heart weight to body weight ratio shows an 18-27% decrease in heart mass at 4-5 months of age
|
• altering the physiologic load on the heart shows some impairment in contractility
|
• at a baseline workload, hearts exhibit a 25% decrease in the maximal rate of relaxation
• hearts show a moderately good correlation of +dP/dT to increased work, however the slope of the Starling curve is severely decreased during relaxation suggesting that hearts cannot respond to an increased work load by shortening their relaxation time
|
• isolated adult cardiac myocytes and hypersensitive to calcium; addition of calcium led to immediate cellular hypercontracture and death
|
muscle
• neonatal and adult hearts show myocellular disorganization and degeneration
|
• exhibit about 8-10% fewer myocytes than controls
|
• mean length and midpoint width of quiescent ventricular cardiac myocytes are 15 and 13% smaller, respectively, than in controls and mean myocyte area is decreased by 17%
|
• neonatal and adult hearts show myocellular degeneration
|
• neonatal and adult hearts show myocellular disorganization
|
• altering the physiologic load on the heart shows some impairment in contractility
|
• at a baseline workload, hearts exhibit a 25% decrease in the maximal rate of relaxation
• hearts show a moderately good correlation of +dP/dT to increased work, however the slope of the Starling curve is severely decreased during relaxation suggesting that hearts cannot respond to an increased work load by shortening their relaxation time
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hypertrophic cardiomyopathy 2 | DOID:0110308 |
OMIM:115195 |
J:48301 |