growth/size/body region phenotype

• decreased body size
  (MGI Ref ID J:279)
  • at weaning mice are two-thirds the size of wild-type mice
  (MGI Ref ID J:260)
  • mice are smaller than normal from birth up to three months of age
  (MGI Ref ID J:260)

• distended abdomen
  • mice that die prior to weaning exhibit swollen abdomens with perintoneal cavities filled with thin, white liquid unlike in wild-type mice
  (MGI Ref ID J:279)

integument phenotype

• short vibrissae
  • at E17, post-orbital vibrissa are shorter than normal
  (MGI Ref ID J:279)

• decreased zigzag hair amount
  • only a small patch on the shoulders
  (MGI Ref ID J:260)
  • zigzag hairs are absent in the middle of the dorsum
  (MGI Ref ID J:279)

• abnormal vibrissa morphology
  • at E17, mystacial vibrissa are incomplete and post-orbital vibrissa are absent or reduced in size compared to in wild-type mice
  (MGI Ref ID J:279)
  • mice lack inter-ramal and anterior supra-orbital vibrissa unlike wild-type mice
  (MGI Ref ID J:279)
  • postoral and posterior supra-orbital vibrassa are decreased in number compared to in wild-type mice
  (MGI Ref ID J:279)

• abnormal awl hair morphology
  • mice have some awl hairs unlike in wild-type mice
  (MGI Ref ID J:260)

• abnormal hair growth
  • asynchronous
  (MGI Ref ID J:279)

• abnormal vibrissa number
  • anterior vibrissae and their follicles are absent unlike in wild-type mice
  (MGI Ref ID J:260)

• delayed hair appearance
  • initiation of each follicle type is delayed compared to in wild-type mice
  (MGI Ref ID J:279)
  • at 3 days of age, mice are still pink due to sparse coat unlike wild-type mice that have developed a coat
  (MGI Ref ID J:260)

• skin edema
  • mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches
  (MGI Ref ID J:260)

• absent auchene hairs
  (MGI Ref ID J:260)

• sparse hair
  (MGI Ref ID J:260)

• abnormal hair follicle morphology
  • mice lack follicles in the quiescent stage and are abnormal with bulbs that are twisted and curved unlike in wild-type mice
  (MGI Ref ID J:279)

• abnormal zigzag hair morphology
  • some zigzag hairs are narrow, curled, lacked constrictions, and contain small medullar cells which lack pigment unlike in wild-type mice
  (MGI Ref ID J:279)

mortality/aging

• perinatal lethality, incomplete penetrance
  • many mice are dead or dying at birth
  (MGI Ref ID J:279)
  • many mice are dead or dying shortly after birth
  (MGI Ref ID J:260)

• postnatal lethality, incomplete penetrance
  • edematous mice die prior to weaning
  (MGI Ref ID J:279)
  • fewer than expected mice are present at weaning
  (MGI Ref ID J:260)

homeostasis/metabolism phenotype

• cyanosis
  • in some mice at birth
  (MGI Ref ID J:260)

• edema
  (MGI Ref ID J:279)
  • mice that die around birth are edematous in the neck, shoulders, and abdominal and pleural cavities
  (MGI Ref ID J:260)
  • at birth, some mice are edematous
  (MGI Ref ID J:260)

• skin edema
  • mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches
  (MGI Ref ID J:260)

homeostasis/metabolism phenotype

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

• edema
  • generalized at E13.5
  (MGI Ref ID J:150211)

immune system phenotype

• abnormal lymphatic vessel morphology
  • lymphatic vessels are finer, denser, and more branched with more loops and fewer blind-ended sacs compared to in wild-type mice
  (MGI Ref ID J:143564)

integument phenotype

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

mammalian phenotype

• cardiovascular system phenotype
  • Normal - 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
  (MGI Ref ID J:150211)

mortality/aging

• lethality throughout fetal growth and development, complete penetrance
  • mice do not survive beyond E14.5
  (MGI Ref ID J:150211)
  • mice die before E14.5
  (MGI Ref ID J:143564)

cardiovascular system phenotype

• abnormal pericyte morphology
  • fewer pericytes are recruited to microvasculature compared to in wild-type mice
  (MGI Ref ID J:150211)

• abnormal blood vessel morphology
  • at E13.5, all mice exhibit enlarged surface microvasculature compared to in wild-type mice
  (MGI Ref ID 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
  (MGI Ref ID J:150211)
  • vascular defects increase in severity with age
  (MGI Ref ID J:150211)
  • at E14.5, surface microvessels, particularly around the anterior cranial region, are enlarged compared to in wild-type mice
  (MGI Ref ID J:150211)
  • subdermal microvasculature diameter is increased 21% at E12.5 and 35% at E13.5 compared to in wild-type mice
  (MGI Ref ID J:150211)
  • enlarged blood vessels frequently rupture
  (MGI Ref ID J:150211)

• hematoma
  • over large areas of the trunk, neck, and head
  (MGI Ref ID J:150211)

• increased vascular endothelial cell number
  • endothelial hyperplasia is associated with defects in pericyte recruitment
  (MGI Ref ID J:150211)

• hemorrhage
  • at E13.5, mice exhibit multiple regions of vascular hemorrhage unlike in wild-type mice
  (MGI Ref ID J:150211)
  • enlarged blood vessels frequently rupture
  (MGI Ref ID J:150211)
  • at E14.5, large-scale vascular hemorrhage is observed in all mice
  (MGI Ref ID J:150211)

• abnormal vascular endothelial cell physiology
  • loss of vascular integrity is due to endothelial rupture
  (MGI Ref ID J:150211)

mortality/aging

• embryonic lethality, complete penetrance
  • mice die at E11 or earlier
  (MGI Ref ID J:279)

• preweaning lethality, complete penetrance
  • no mice are found (no time of observation provided)
  (MGI Ref ID J:260)