Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hspb7tm1.2Chen mutation
(0 available);
any
Hspb7 mutation
(14 available)
Tg(Myh6-Tmod1)65Msus mutation
(0 available)
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HSPB7 represses formation of abnormal actin bundles independent of Tmod1
cardiovascular system
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• at E10.5, average thin filament length was comparable to that observed in cardiomyocytes of single Hspb7tm1.2Chen homozygotes
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muscle
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• at E10.5, cardiomyocyte sarcomeres exhibited abnormal actin bundles (AABs) and an average thin filament length that was comparable to that observed in cardiomyocytes of single Hspb7tm1.2Chen homozygotes, indicating that increasing Tmod1 at pointed ends could not rescue either the AAB or longer thin filament phenotype
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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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• first wave of increased mortality occurs around 15-16 days after birth and the second wave at around 21 days of age, with about 50% dying between 14 and 22 days
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• 58% die within 6 weeks after birth, although some mutants can live over 1 year
• a third wave of mortality occurs between 30 and 50 days
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• first wave of increased mortality occurs around 15-16 days after birth and the second wave at around 21 days of age, with about 50% dying between 14 and 22 days
• small litters show the highest mortality rates
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cardiovascular system
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• 89% increase in intracellular calcium in cardiomyocytes
• amplitude of the calcium transient is 128% greater than in controls, raising peak systolic calcium level 2-fold above controls
• degenerative changes in sarcomere organization are apparent at birth and by 8 days after birth, show signs of sarcomeric dysgenesis such as poor alignment and wavy appearance
• although Z-disks are present at birth, structures are often poorly spaced or unaligned
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• disproportionate increases in heart weight occur around 1.5 weeks after birth, with most of the cardiac enlargement occurring in a very short time of 2-3 days
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• left ventricular chamber increases in size over time (from P11 to P14), however ventricular wall and spetal thickness remain normal at P8, P11 and P14
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homeostasis/metabolism
muscle
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• 89% increase in intracellular calcium in cardiomyocytes
• amplitude of the calcium transient is 128% greater than in controls, raising peak systolic calcium level 2-fold above controls
• degenerative changes in sarcomere organization are apparent at birth and by 8 days after birth, show signs of sarcomeric dysgenesis such as poor alignment and wavy appearance
• although Z-disks are present at birth, structures are often poorly spaced or unaligned
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growth/size/body
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• disproportionate increases in heart weight occur around 1.5 weeks after birth, with most of the cardiac enlargement occurring in a very short time of 2-3 days
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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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• mutants always die if overstressed with physical handling
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• mutants with most severe phenotypes show cardiomyopathic changes between 2 and 4 weeks after birth and die within 2-3 days of exhibiting the phenotypes
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cardiovascular system
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• percentage of cell volume occupied by the nucleus in hearts is significantly greater, however do not exhibit an increase in nuclear number
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• myofibrils are disorganized, show a loss of parallel alignment, are curved with distorted Z bands, and exhibit sarcomeric dysgenesis, with a 53% reduction in sarcomeric length
• actin and myosin filaments are found without discernible Z bands is some areas, whereas in other regions distinct closely spaced sarcomeres are seen
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• myofibrils are absent from large areas of the cell and numerous mitochondria are present, consistent with degenerating cardiomyocytes
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• the right ventricular myocardial wall is translucent, indicating a decrease in thickness and the left ventricular posterior wall is thinner
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• ventricular wall shows karyomegalic nuclei
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• thinning of ventricular septum
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• extreme left ventricle dilation despite the thinned myocardium
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• exhibit global dilation with marked right side atrial and ventricular enlargement, however do not exhibit cardiac hypertrophy
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• 59% decrease in +dP/dt, indicating reduced contractility
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• left ventricle exhibits decreased shortening fraction and velocity of circumferential fiber shortening
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• 52% decrease in -dP/dt, indicating that relaxation is prolonged
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• heart rate is 11% lower than controls
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• some exhibit heart failure at 2-4 weeks of age
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muscle
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• myofibrils are disorganized, show a loss of parallel alignment, are curved with distorted Z bands, and exhibit sarcomeric dysgenesis, with a 53% reduction in sarcomeric length
• actin and myosin filaments are found without discernible Z bands is some areas, whereas in other regions distinct closely spaced sarcomeres are seen
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• myofibrils are absent from large areas of the cell and numerous mitochondria are present, consistent with degenerating cardiomyocytes
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• the right ventricular myocardial wall is translucent, indicating a decrease in thickness and the left ventricular posterior wall is thinner
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• exhibit global dilation with marked right side atrial and ventricular enlargement, however do not exhibit cardiac hypertrophy
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• 59% decrease in +dP/dt, indicating reduced contractility
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• left ventricle exhibits decreased shortening fraction and velocity of circumferential fiber shortening
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• 52% decrease in -dP/dt, indicating that relaxation is prolonged
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vision/eye
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• exhibit proptosis with unusually dark eyes
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respiratory system
homeostasis/metabolism
growth/size/body
Analysis Tools