Phenotypes Associated with This Genotype

Genotype
MGI:3712759

• Allelic Composition: Plod1^tm1Soin/Plod1^tm1Soin
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Gait abnormalities in Plod1^tm1Soin/Plod1^tm1Soin mice

mortality/aging

premature death ( J:120891 )

• 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

abnormal motor capabilities/coordination/movement ( J:120891 )

• 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

paralysis ( J:120891 )

• one mouse was sacrificed due to paralysis

cardiovascular system

abnormal aorta wall morphology ( J:120891 )

• collagen fiber cross-linking is altered

• collagen fibers within the aortic wall have increased diameters (67nm compared to 44nm in wild-type) and have irregular contours

abnormal aorta smooth muscle morphology ( J:120891 )

• vascular smooth muscle less regular around the aortic wall and shows degenerative changes, including vacuolization and mitochondrial swelling

aortic dissection ( J:120891 )

• mice that die prematurely experience aortic dissections

hemorrhage ( J:120891 )

• mice that die prematurely experience thoracic or abdominal cavity hemorrhages

muscle

abnormal aorta smooth muscle morphology ( J:120891 )

• vascular smooth muscle less regular around the aortic wall and shows degenerative changes, including vacuolization and mitochondrial swelling

hypotonia ( J:120891 )

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

integument

abnormal cutaneous collagen fibril morphology ( J:120891 )

• 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