Analysis Tools
mortality/aging
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• 65% of males survive to 6 weeks of age compared to 33% of females
• mice that survive to 16 weeks of age appear normal to 1 year of age
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• premature lethality, with 55% dying between 2 and 12 weeks of age
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• fewer than the expected number of homozygotes are seen at 10 days of age, however normal numbers are seen from E9.5 to E18.5
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growth/size/body
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• mutants have approximately 3 somites less than controls at E9.5 and E10.5, equivalent to a developmental delay of around 6 hours
• homozygous embryos from females supplemented with sodium formate during pregnancy exhibit normal growth
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cardiovascular system
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• swelling of the brain with evident hemorrhage
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craniofacial
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• hydrocephalus is characterized by enlargement of the cranium
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• hydrocephalus is characterized by a dome-shaped appearance
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embryo
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• mutants have approximately 3 somites less than controls at E9.5 and E10.5, equivalent to a developmental delay of around 6 hours
• homozygous embryos from females supplemented with sodium formate during pregnancy exhibit normal growth
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• neural tube defects are seen in about 24% of embryos
• embryos from females maintained on a folate-deficient diet with antibiotics to remove folate-synthesizing gut microflora before mating do not show an increase in neural tube defects
• embryos from females supplemented with sodium formate show prevention of neural tube defects but does not correct glycine levels
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• reduction in rate of mitosis in the neuroepithelium of neural folds of embryos in which closure is incomplete at E9.5
• homozygous embryos from females supplemented with sodium formate during pregnancy show enhanced proliferation in the neuroepithelium
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• a proportion of embryos at E9.5-10.5 exhibit persistently open cranial neural folds
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• neural tube remains open in 29% of embryos with 18 somites or more
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homeostasis/metabolism
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• proportion of one-carbon-carrying activated folates (methylene, formyl, and methyl tetrahydrofolate) is diminished while non-activated folates (dihydrofolate and tetrahydrofolate) is increased
• homozygous embryos from females supplemented with sodium formate during pregnancy show a reduction in the level of tetrahydrofolate and an increase in the abundance of formyl tetrahydrofolate
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• glycine levels are elevated in the plasma by E11.5
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• glycine levels are elevated in the urine by E11.5
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nervous system
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• swelling of the brain with evident hemorrhage
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• neural tube defects are seen in about 24% of embryos
• embryos from females maintained on a folate-deficient diet with antibiotics to remove folate-synthesizing gut microflora before mating do not show an increase in neural tube defects
• embryos from females supplemented with sodium formate show prevention of neural tube defects but does not correct glycine levels
|
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• reduction in rate of mitosis in the neuroepithelium of neural folds of embryos in which closure is incomplete at E9.5
• homozygous embryos from females supplemented with sodium formate during pregnancy show enhanced proliferation in the neuroepithelium
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• a proportion of embryos at E9.5-10.5 exhibit persistently open cranial neural folds
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• neural tube remains open in 29% of embryos with 18 somites or more
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hydrocephaly
(
J:221782
)
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• 22% of mice develop hydrocephalus, mostly in females, characterized by a dome-shaped appearance of the head and enlargement of the cranium
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• enlargement of the ventricles
• embryos that do not exhibit exencephaly show enlargement of the brain ventricles at E18.5
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exencephaly
(
J:221782
)
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• a proportion of embryos display exencephaly
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renal/urinary system
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• glycine levels are elevated in the urine by E11.5
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skeleton
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• hydrocephalus is characterized by enlargement of the cranium
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• hydrocephalus is characterized by a dome-shaped appearance
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| glycine encephalopathy | DOID:9268 |
OMIM:PS605899 |
J:221782 | |
