mortality/aging
• while most mice live to an old age some die suddenly (17% of males and 9% of females) before one year and usually between 1 and 4 months
|
behavior/neurological
• most mice do not move when placed on a rod or the top of the wall of a plastic container and those that do move proceed without problems for a short while and tire quickly
|
cardiovascular system
• collagen fibers within the aortic wall have increased diameters (67nm compared to 44nm in wild-type) and have irregular contours
• collagen fiber cross-linking is altered
|
• vascular smooth muscle less regular around the aortic wall and shows degenerative changes, including vacuolization and mitochondrial swelling
|
• mice that die prematurely experience aortic dissections
|
hemorrhage
(
J:120891
)
• mice that die prematurely experience thoracic or abdominal cavity hemorrhages
|
muscle
• vascular smooth muscle less regular around the aortic wall and shows degenerative changes, including vacuolization and mitochondrial swelling
|
integument
• collagen fibers in the skin have increased diameters (91nm compared to 62nm in wild-type) and have irregular contours with degradation evident
• collagen fiber cross-linking is altered
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Ehlers-Danlos syndrome | DOID:13359 |
OMIM:PS130000 |
J:120891 |