Analysis Tools
mortality/aging
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• all mutant males died between 4 and 9 months of age while females died between 7 and 13 months of age
|
behavior/neurological
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• both males and females fell earlier from a rotarod compared to wild-type at 6 months of age
|
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• males and females began to show a hunched position and stiff walking posture at 3 months and 6 months of age, respectively
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abnormal gait
(
J:95528
)
|
• males and females began to show a stiff walking posture at 3 months and 6 months of age, respectively
|
bradykinesia
(
J:95528
)
|
• at 6 months of age, spontaneous locomotion tested in an open field was impaired in males but not in females until 8 months of age
|
cardiovascular system
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• myocytes of cardiac muscle had very dark, condensed and irregularly distributed heterochromatin, the nuclear membrane sometimes had deep convolutions with the appearance of intranuclear tubules, and had an accumulation of P-Smad2/3 in nuclei
|
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• left and right ventricles contained single or small clusters of cardiac muscle cells with degeneration and necrosis
|
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• at 2 months of age, males developed a progressive left ventricle dilation but no left ventricle hypertrophy and this defect occurred later (4 months) and progressed less rapidly in females
(J:95528)
• increase in left ventricular end-diastolic diameter and left ventricular end-systolic diameter indicating left ventricular dilation
(J:187399)
• treatment with ARRY-371797, a highly selective and potent inhibitor of Mapk14, reduces left ventricular end-diastolic diameter and left ventricular end-systolic diameter
(J:187399)
|
|
• decreased left ventricular shortening indicating a decrease of contractile function
(J:95528)
• decrease in fractional shortening
(J:187399)
• treatment with ARRY-371797, a highly selective and potent inhibitor of Mapk14, increases fractional shortening
(J:187399)
|
|
• ventricular extra-systoles were observed in 5 month old males during ECG recordings
|
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• males at 3 months of age showed a significant increase in the PR interval, indicating atrio-ventricular conduction defects
|
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• the QRS complex duration, as a parameter for intraventricular conduction, was significantly increased in 5 month old males
|
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• frequent sinuatrial blocks are observed in 5 month old males during ECG recordings
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growth/size/body
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• beginning at 3 months of age, males weighed less than controls while females were slightly lighter but only after 6 months of age
|
|
• growth rate of males was reduced after 3 months of age, despite normal feeding behavior
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homeostasis/metabolism
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• 6-8 month old males, but not females, had lower levels of serum glucose but no significant differences in the levels of insulin, low density lipoprotein, uric acids, asparate aminotransferase and alanine aminotransferase
|
|
• 6-8 month old females, but not males, had higher triglycerides levels but no significant differences in the levels of insulin, low density lipoprotein, uric acids, asparate aminotransferase and alanine aminotransferase
|
muscle
|
• myocytes of cardiac muscle had very dark, condensed and irregularly distributed heterochromatin, the nuclear membrane sometimes had deep convolutions with the appearance of intranuclear tubules, and had an accumulation of P-Smad2/3 in nuclei
|
|
• left and right ventricles contained single or small clusters of cardiac muscle cells with degeneration and necrosis
|
|
• decreased left ventricular shortening indicating a decrease of contractile function
(J:95528)
• decrease in fractional shortening
(J:187399)
• treatment with ARRY-371797, a highly selective and potent inhibitor of Mapk14, increases fractional shortening
(J:187399)
|
|
• moderate quadriceps and triceps abnormalities with myocytes of quadriceps having very dark, condensed and irregularly distributed heterochromatin, the nuclear membrane sometimes had deep convolutions with the appearance of intranuclear tubules, and saw an accumulation of P-Smad2/3 in nuclei
|
|
• moderate gastrocnemius abnormalities
|
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• increase of connective tissue in the soleus muscles
• fiber size was variable with increased hypertrophic muscle cells and numerous degenerative fibers
|
|
• moderate tibialis abnormalities
|
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• increase of connective tissue in the diaphragm
• fiber size was variable with increased hypertrophic muscle cells and numerous degenerative fibers
|
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• increase of connective tissue in the diaphragm and soleus muscles
|
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• adult mice develop muscular dystrophy
|
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• diaphragm, soleus, gastrocnemius, quadriceps, triceps, and tibialis anterior muscle weakness
|
respiratory system
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• males and females began to exhibit rapid shallow breathing at 3 months and 6 months of age, respectively
|
limbs/digits/tail
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• moderate gastrocnemius abnormalities
|
|
• increase of connective tissue in the soleus muscles
• fiber size was variable with increased hypertrophic muscle cells and numerous degenerative fibers
|
|
• moderate tibialis abnormalities
|
cellular
|
• left and right ventricles contained single or small clusters of cardiac muscle cells with degeneration and necrosis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| dilated cardiomyopathy 1A | DOID:0110425 |
OMIM:115200 |
J:187399 | |
| Emery-Dreifuss muscular dystrophy | DOID:11726 |
OMIM:PS310300 |
J:95528 | |
