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Phenotypes Associated with This Genotype
Genotype
MGI:5897391
Allelic
Composition
Adatm1Mw/Adatm1Mw
Tg(Afp-ADA)#Xiay/0
Genetic
Background
involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adatm1Mw mutation (3 available); any Ada mutation (31 available)
Tg(Afp-ADA)#Xiay mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory