Mouse Genome Informatics
hm1
    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


Mouse Genome Informatics
hm2
    Sox18Ra-Op/Sox18Ra-Op
involves: C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die at E11 or earlier
• no mice are found (no time of observation provided)


Mouse Genome Informatics
ht3
    Sox18Ra-Op/Sox18+
involves: C57BL/6J * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• many mice are dead or dying shortly after birth (J:260)
• many mice are dead or dying at birth (J:279)
• fewer than expected mice are present at weaning (J:260)
• edematous mice die prior to weaning (J:279)

growth/size
• mice are smaller than normal from birth up to three months of age (J:260)
• at weaning mice are two-thirds the size of wild-type mice (J:260)
• mice that die prior to weaning exhibit swollen abdomens with perintoneal cavities filled with thin, white liquid unlike in wild-type mice

homeostasis/metabolism
• in some mice at birth
• at birth, some mice are edematous (J:260)
• mice that die around birth are edematous in the neck, shoulders, and abdominal and pleural cavities (J:260)
• mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches

integument
• mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches
• mice have some awl hairs unlike in wild-type mice
• asynchronous (J:260)
• asynchronous (J:279)
• at 3 days of age, mice are still pink due to sparse coat unlike wild-type mice that have developed a coat (J:260)
• initiation of each follicle type is delayed compared to in wild-type mice (J:279)
• some zigzag hairs are narrow, curled, lacked constrictions, and contain small medullar cells which lack pigment unlike in wild-type mice
• only a small patch on the shoulders (J:260)
• zigzag hairs are absent in the middle of the dorsum (J:279)
• mice lack follicles in the quiescent stage and are abnormal with bulbs that are twisted and curved unlike in wild-type mice
• at E17, mystacial vibrissa are incomplete and post-orbital vibrissa are absent or reduced in size compared to in wild-type mice
• mice lack inter-ramal and anterior supra-orbital vibrissa unlike wild-type mice
• postoral and posterior supra-orbital vibrassa are decreased in number compared to in wild-type mice
• anterior vibrissae and their follicles are absent unlike in wild-type mice
• at E17, post-orbital vibrissa are shorter than normal