Mouse Genome Informatics
hm1
    Slc2a10G128E/Slc2a10G128E
C3HeB/FeJ-Slc2a10G128E
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice exhibit artery abnormalities that are more severe than in Slc2a10S150F 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
• artery adventitia exhibits an increase in collage fibers compared to in wild-type mice
• artery walls are thickened and irregularly shaped compared to in wild-type mice
• mice exhibit an increase in the number and size of elastic fibers compared with wild-type mice
• 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
• thickened intima with hypertrophy
• vessel walls in kidney arteries exhibit increased elastic fiber and zigzag-shaped internal elastic lamina compared to in wild-type mice
• 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
• lung arterial walls exhibit an increase in elastic fibers compared to in wild-type mice

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

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

respiratory system
• lung arterial walls exhibit an increase in elastic fibers compared to in wild-type mice
• lung alveolar walls exhibit an increase in elastic fibers compared to in wild-type mice
• increased elastic fibres along the arterial walls and alveolar walls of mutant lungs

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


Mouse Genome Informatics
hm2
    Slc2a10G128E/Slc2a10G128E
involves: C3HeB/FeJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• mice exhibit normal development of the truncus brachiocephalicus and carotid artery without tortuosity, dilation stenoses or abnormal branching of the aorta

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Arterial Tortuosity Syndrome; ATS 208050 J:140316