Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc1tm1Os mutation
(1 available);
any
Phc1 mutation
(72 available)
Tg(Myh7-Phc1)#Yota mutation
(0 available)
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cardiovascular system
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• mice exhibit cardiac abnormalities similar to that of single Phc1 homozygous mutants
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• membranous or muscular ventricular septal defects
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
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mortality/aging
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• 100% lethality within 8 months of age
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cardiovascular system
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• ventricles are occupied by abnormal cardiomyocytes at 3 and 6 months of age
• in the most severe regions, H lines are not visible
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• thinning of the myocardium associated with cardiac failure
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• hearts are enlarged with severe reduction of the ventricular wall thickness at autopsy
• however, hypertrophy of the heart is not seen at any stage
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• left ventricular dimension is increased and left ventricular ejection fraction is decreased in 5-6 month old mice
• however, no reduction in left ventricular posterior wall thickness or interventricular septal thickness is seen at 5-6 months of age
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• increase in cardiomyocyte apoptosis at 3 and 6 months of age
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• mice show characteristics of heart failure such as general weakness, lack of food and water intake, labored breathing, generalized edema with gain of body weight
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cellular
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• increase in cardiomyocyte apoptosis at 3 and 6 months of age
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• the number of the stacks of the mitochondrial cristae is reduced in cardiomyocytes
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• very elongated mitochondria are sometimes seen in cardiomyocytes
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homeostasis/metabolism
muscle
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• ventricles are occupied by abnormal cardiomyocytes at 3 and 6 months of age
• in the most severe regions, H lines are not visible
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• thinning of the myocardium associated with cardiac failure
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• left ventricular dimension is increased and left ventricular ejection fraction is decreased in 5-6 month old mice
• however, no reduction in left ventricular posterior wall thickness or interventricular septal thickness is seen at 5-6 months of age
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• increase in cardiomyocyte apoptosis at 3 and 6 months of age
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• cardiomyocyte sarcomeres show abnormal arrangements with irregular and loose myofilaments
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• in the most severe regions, M lines are not visible in cardiomyocytes
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• Z-lines are vague and enlarged in cardiomyocytes
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respiratory system
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• death is preceded for several days by dyspnea
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growth/size/body
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• hearts are enlarged with severe reduction of the ventricular wall thickness at autopsy
• however, hypertrophy of the heart is not seen at any stage
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