Mouse Genome Informatics
hm
    Plod1tm1Soin/Plod1tm1Soin
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Gait abnormalities in Plod1tm1Soin/Plod1tm1Soin mice

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
• one mouse was sacrificed due to paralysis

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
• 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
• mice are passive, feel soft and are floppy when held

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
OMIM IDRef(s)
Ehlers-Danlos Syndrome, Type VI; EDS6 225400 J:120891