Analysis Tools
growth/size/body
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• blunted snouts
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• ~20% reduction in body weight seen in males at 10 weeks of age
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craniofacial
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• skull shape abnormalities
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• blunted snouts
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cardiovascular system
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• although normalized cardiac collagen mass is normal in males at 10 weeks of age, the collagen area fraction is increased by 67%, suggesting that interstitial cardiac collagen density is reduced due to altered collagen deposition and cross-linking
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• atypical reduction in cardiomyocyte length in males at 10 weeks of age
• 22% reduction in cardiomyocyte volume, in agreement with ~20% reduction in heart weight at 10 weeks of age
• however, cardiomyocyte cross-sectional area is relatively normal
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small heart
(
J:214642
)
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• reduced heart size, mostly due to a reduction in cardiomyocyte length
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• ~20% reduction in heart weight seen in males at 10 weeks of age
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• reduced contractility as determined by maximum LV pressure and maximum dP/dt after inotropic stimulation with increasing doses of dobutamine at 10 weeks of age
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• slower relaxation as determined by minimum dP/dt and time constant of relaxation after inotropic stimulation with increasing doses of dobutamine at 10 weeks of age
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• echocardiography revealed a trend toward reductions in LV end-diastolic dimension, LV end-systolic dimension, LV end-diastolic dimension/LV posterior wall thickness, and estimated LV mass in male mice at 10 weeks of age
• significantly reduced LV chamber dimensions and estimated LV masses in both sexes at 5 months of age
• however, fractional shortening is normal by echocardiography
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• catheter measurements revealed mild inotropic and lusitropic abnormalities that are accentuated by dobutamine infusion
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reproductive system
infertility
(
J:214642
)
|
• mice are essentially sterile by 4 months of age
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• fecundity drops dramatically with age in both sexes
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mortality/aging
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• pregnancies in young females can be fatal, with some mice dying either during or after pregnancy
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homeostasis/metabolism
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• although normalized cardiac collagen mass is normal in males at 10 weeks of age, the collagen area fraction is increased by 67%, suggesting that interstitial cardiac collagen density is reduced due to altered collagen deposition and cross-linking
• in culture, cardiac fibroblasts isolated from mixed-sex adult mutant mice show a ~30% reduction in the deposition rate of insoluble collagen relative to wild-type controls
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limbs/digits/tail
short tibia
(
J:214642
)
|
• significantly reduced tibial lengths in males at 10 weeks of age
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short limbs
(
J:214642
)
muscle
|
• atypical reduction in cardiomyocyte length in males at 10 weeks of age
• 22% reduction in cardiomyocyte volume, in agreement with ~20% reduction in heart weight at 10 weeks of age
• however, cardiomyocyte cross-sectional area is relatively normal
|
|
• reduced contractility as determined by maximum LV pressure and maximum dP/dt after inotropic stimulation with increasing doses of dobutamine at 10 weeks of age
|
|
• slower relaxation as determined by minimum dP/dt and time constant of relaxation after inotropic stimulation with increasing doses of dobutamine at 10 weeks of age
|
skeleton
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• skull shape abnormalities
|
short tibia
(
J:214642
)
|
• significantly reduced tibial lengths in males at 10 weeks of age
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