cardiovascular system
• cardiac myofibers show marked size variability on both longitudinal and transverse sections when compared to controls
|
• hypertrophy of cardiac myofibers
• increased mean cardiac muscle fiber diameter
|
• transgenic mice at 6 weeks of age show thickening of the interventricular septum
|
• increased cardiac weight at 4, 12, 24 and 36 weeks of age when compared with controls
• statistically significant increases in the cardiac weight-to-body weight ratio at 4, 12, 24 and 36 weeks of age when compared with controls
|
• small left ventricular chamber due to thickening of interventricular septum and left ventricle posterior wall at 6 weeks of age
|
• thickening of the posterior wall of the left ventricle at 6 weeks of age
|
• hypercontractility (increased left ventricular fractional shortening)
|
• diastolic dysfunction (decreased left ventricular end diastolic diameter)
|
muscle
• cardiac myofibers show marked size variability on both longitudinal and transverse sections when compared to controls
|
• hypertrophy of cardiac myofibers
• increased mean cardiac muscle fiber diameter
|
• at 6 weeks of age
|
• at 6 weeks of age
|
• at 6 weeks of age
|
• skeletal muscles exhibit increased neuronal nitric oxide synthase (nNOS) activity compared to in wild-type muscles
|
• hypercontractility (increased left ventricular fractional shortening)
|
• at 6 weeks of age, mice exhibit myopathic features, including variation in fiber size, atrophic fibers, internally placed nuclei, and increased endomysium compared with wild-type mice
|
growth/size/body
• increased cardiac weight at 4, 12, 24 and 36 weeks of age when compared with controls
• statistically significant increases in the cardiac weight-to-body weight ratio at 4, 12, 24 and 36 weeks of age when compared with controls
|
• at 6 weeks of age
(J:67174)
• significantly smaller than controls at 4, 12, 24 and 36 weeks of age
(J:87692)
|
• poor postnatal growth
(J:87692)
|
skeleton
• at 6 weeks of age
(J:67174)
• kyphosis of the spine from 12 weeks of age
(J:87692)
|
behavior/neurological
• at 6 weeks of age
(J:67174)
• paralysis of the hindlimbs from 12 weeks of age
(J:87692)
|
homeostasis/metabolism
• skeletal muscles exhibit increased neuronal nitric oxide synthase (nNOS) activity compared to in wild-type muscles
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
hypertrophic cardiomyopathy | DOID:11984 | J:87692 | ||
rippling muscle disease 2 | DOID:0060255 |
OMIM:606072 |
J:67174 |