All Phenotypes Slc2a10<G128E> MGI Mouse

abnormal blood vessel morphology ( J:161835 )

• mice exhibit artery abnormalities that are more severe than in Slc2a10^S150F homozygotes older mice exhibit more severe phenotypes than younger mice

• central arteries in splenic white pulp exhibit thickened vessel wall with accumulation of elastic fibers in the internal elastic lamina and collagen fibers in the tunica adventitia unlike in wild-type mice

• however, cerebral arteries are normal at 10 months

abnormal artery morphology ( J:161835 )

• artery adventitia exhibits an increase in collage fibers compared to in wild-type mice

abnormal aorta wall morphology ( J:161835 )

• artery walls are thickened and irregularly shaped compared to in wild-type mice

abnormal aorta elastic fiber morphology ( J:161835 )

• mice exhibit an increase in the number and size of elastic fibers compared with wild-type mice

aortic elastic tissue lesions ( J:161835 )

• at 10 months, endothelial and smooth muscle cells form small plaques in the lamina interna and media disrupting the internal elastic lamina membrane unlike in wild-type mice

abnormal descending aorta morphology ( J:161835 )

• thickened intima with hypertrophy

abnormal kidney arterial blood vessel morphology ( J:161835 )

• vessel walls in kidney arteries exhibit increased elastic fiber and zigzag-shaped internal elastic lamina compared to in wild-type mice

abnormal blood vessel elastic tissue morphology ( J:161835 )

• lung arterial walls and alveolar walls exhibit an increase in elastic fibers compared to in wild-type mice

• central arteries in splenic white pulp exhibit thickened vessel wall with accumulation of elastic fibers in the internal elastic lamina and collagen fibers in the tunica adventitia unlike in wild-type mice

• vessel walls in kidney arteries exhibit increased elastic fiber and zigzag-shaped internal elastic lamina compared to in wild-type mice

abnormal lung vasculature morphology ( J:161835 )

• lung arterial walls exhibit an increase in elastic fibers compared to in wild-type mice

abnormal spleen morphology ( J:161835 )

• spleen trabecula is widened where arteries, veins, nerves, and lymphatics travel in parallel compared to in wild-type mice

abnormal kidney arterial blood vessel morphology ( J:161835 )

• vessel walls in kidney arteries exhibit increased elastic fiber and zigzag-shaped internal elastic lamina compared to in wild-type mice

abnormal lung vasculature morphology ( J:161835 )

• lung arterial walls exhibit an increase in elastic fibers compared to in wild-type mice

abnormal pulmonary alveolus wall morphology ( J:161835 )

• lung alveolar walls exhibit an increase in elastic fibers compared to in wild-type mice

abnormal pulmonary elastic fiber morphology ( J:161835 )

• increased elastic fibres along the arterial walls and alveolar walls of mutant lungs

abnormal spleen morphology ( J:161835 )

• spleen trabecula is widened where arteries, veins, nerves, and lymphatics travel in parallel compared to in wild-type mice

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

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	arterial tortuosity syndrome	DOID:0050645	OMIM:208050	J:140316

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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