cardiovascular system
• ascending and descending aortas from 12-week old mutants exhibit decreased aortic stiffness and breaking strength
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integument
• exhibit a 50% decrease in type V collagen content in skin
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• mice show alterations in type I collagen fiber composition in the dermis, but not the Achilles tendons, including a decrease in the beta1,2 dimers, cross-linked by an intramolecular aldol band and increase in gamma trimers, cross-linked by an intermolecular aldol bond
|
• dermis contains poorly organized and less densely fibers and contains a mixture of relatively normal symmetrical fibrils that are somewhat broader and larger in diameter and very large diameter and aberrant fibrils; the large aberrant fibrils contain no type V collagen
• exhibit a significant delay in dermal collagen accumulation between 4 and 8 weeks of age, however by 12 weeks the total quantity of dermal collagen is similar to wild-type
• dermis shows reduced density of dermal connective tissue
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• skin is hyperextensible compared to wild-type, but there is no skin redundancy
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• tensile strength of unwounded and wounded skin is reduced
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Ehlers-Danlos syndrome classic type 1 | DOID:14720 |
OMIM:130000 |
J:112728 , J:326524 |