mortality/aging
• mice die by 3 weeks of age because hepatic production of ADA subsides during the first week following birth
• however, treatment with adenosine deaminase enzyme replacement therapy prevents this lethality and the phenotypes described are with mice that have been treated with the replacement therapy from birth
|
cellular
• fetuses from mutant pregnant females are smaller and weigh less
|
cardiovascular system
• pregnant mice show impaired placental vasculature and reduced CD31+ vessels in the placenta
|
hypertension
(
J:234143
)
• dams develop preeclampsia
|
• dams show an increase in mean systolic blood pressure late in pregnancy beginning on E15.5, which remains elevated through E17.5 and returns to normal by day 5 postpartum
• mean arterial pressure is elevated on E18.5 in dams
|
embryo
• pregnant mice exhibit elevated placental adenosine levels at E12.5 that remain elevated through E18.5
|
• pregnant mice show impaired placental vasculature and reduced CD31+ vessels in the placenta
|
homeostasis/metabolism
• urinary protein (ratio of albumin/creatinine) is elevated on E18.5 but not on E12.5, and this proteinuria is reduced to normal levels by postpartum day 7
|
renal/urinary system
• urinary protein (ratio of albumin/creatinine) is elevated on E18.5 but not on E12.5, and this proteinuria is reduced to normal levels by postpartum day 7
|
• swollen glomeruli with narrowed capillary and Bowmans spaces in pregnant mice
• pregnant mice show glomerular endotheliosis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
pre-eclampsia | DOID:10591 |
OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 |
J:234143 |