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Phenotypes Associated with This Genotype
Genotype
MGI:3712759
Allelic
Composition
Plod1tm1Soin/Plod1tm1Soin
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Plod1tm1Soin mutation (1 available); any Plod1 mutation (10 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Ehlers-Danlos Syndrome, Type VI; EDS6 225400 J:120891


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory