Mouse Genome Informatics
hm
    Sox18Ra-Op/Sox18Ra-Op
B6D2-Sox18Ra-Op/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice die before E14.5 (J:143564)
• mice do not survive beyond E14.5 (J:150211)

cardiovascular system
N
• between E8.5 and E10.5, differentiation, proliferation, migration and association of endothelial cells, and patterning and establishment of the primary vascular plexus is normal (J:150211)
• at E12.5, 67% of mice exhibit enlarged surface microvasculature in the trunk, head, proximal limb and neck unlike in wild-type mice
• subdermal microvasculature diameter is increased 21% at E12.5 and 35% at E13.5 compared to in wild-type mice
• vascular defects increase in severity with age
• at E13.5, all mice exhibit enlarged surface microvasculature compared to in wild-type mice
• at E14.5, surface microvessels, particularly around the anterior cranial region, are enlarged compared to in wild-type mice
• enlarged blood vessels frequently rupture
• endothelial hyperplasia is associated with defects in pericyte recruitment
• fewer pericytes are recruited to microvasculature compared to in wild-type mice
• at E13.5, mice exhibit multiple regions of vascular hemorrhage unlike in wild-type mice
• at E14.5, large-scale vascular hemorrhage is observed in all mice
• enlarged blood vessels frequently rupture
• over large areas of the trunk, neck, and head
• loss of vascular integrity is due to endothelial rupture

homeostasis/metabolism
• generalized at E13.5
• at E13.5 (J:143564)
• 63% of mice exhibit severe subcutaneous edema in the trunk and neck regions un like in wild-type mice (J:150211)

immune system
• lymphatic vessels are finer, denser, and more branched with more loops and fewer blind-ended sacs compared to in wild-type mice

integument
• at E13.5 (J:143564)
• 63% of mice exhibit severe subcutaneous edema in the trunk and neck regions un like in wild-type mice (J:150211)

Mouse Models of Human Disease
OMIM IDRef(s)
Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS 607823 J:150211