Mouse Genome Informatics
hm1
    Slc2a10G128E/Slc2a10G128E
C3HeB/FeJ-Slc2a10G128E
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 (J:140316)

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