Analysis Tools
cardiovascular system
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• elastic laminae of ascending aorta is thin and discontinuous, some discontinuities are observed in descending aorta
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• round nuclei are predominant in the smooth muscle cells of the ascending and descending aortae, in contrast to elongated nuclei found in controls
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• thickening of aortic wall is observed in the ascending and descending aortae
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• 50% of males exhibit aortic root dilation by 7 months of age
• increase in aortic diameter is two-fold compared to controls
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• 50% of males exhibit ascending aortic aneurysms by 7 months of age
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• all males exhibit arterial tortuosity
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• left common carotid artery is tortuous
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• enlarged hearts are observed in 12 month old males
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growth/size/body
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• enlarged hearts are observed in 12 month old males
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integument
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• patchy hair loss is observed in the back skin of 3-4 month old males
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• thinning of the panniculus carnosus muscle is observed in 5 day old males
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• collagen fibers are smaller and less densely packed in 1 month old males
• reduced numbers of collagen fibers are found in 3 month old males as compared to controls, however collagen content is normal
• collagen fibrils are abnormally large and irregularly shaped
• distribution of fibril diameter is broader and shifted toward larger mean diameters
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• elastic fibers of the skin are reduced in number and fragmented
• desmosine content of skin is reduced
• elastic fibers of the dermis are smaller in size
• elastic fibers are deficient in polymerized elastin
• cross-linking of elastic fibers in the skin is substantially reduced
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• thinning of the dermis is observed in 5 day old and 3 month old males
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loose skin
(
J:223792
)
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• 50% of neonate males exhibit loose skin; the severity of the phenotype increases with age
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limbs/digits/tail
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• 50% of neonate males exhibit bent forelimbs; the severity of the phenotype increases with age
• bent limbs are often bilateral
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muscle
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• round nuclei are predominant in the smooth muscle cells of the ascending and descending aortae, in contrast to elongated nuclei found in controls
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• thinning of the panniculus carnosus muscle is observed in 5 day old males
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• collagen fibers in the tendon are smaller with a high abundance of small diameter collagen fibrils
• large diameter fibrils exhibit irregular contours
• tendon fibril distribution is broader and shifted toward large diameters
• spaces between collagen fibers of the tendon are wider than controls
• tendon fibrils include a subpopulation of 50nm fibrils
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respiratory system
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• lung has enlarged airspaces
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• some older mice develop respiratory distress with wheezing
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skeleton
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• collagen fibers in the tendon are smaller with a high abundance of small diameter collagen fibrils
• large diameter fibrils exhibit irregular contours
• tendon fibril distribution is broader and shifted toward large diameters
• spaces between collagen fibers of the tendon are wider than controls
• tendon fibrils include a subpopulation of 50nm fibrils
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vision/eye
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• 50% of neonate old males exhibit droopy eyelids; the severity of the phenotype increases with age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cutis laxa | DOID:3144 |
OMIM:PS123700 |
J:223792 | |
