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Phenotypes Associated with This Genotype
Genotype
MGI:5766287
Allelic
Composition
GldcGt(EUCG0001d02)Hmgu/GldcGt(EUCG0001d02)Hmgu
Genetic
Background
B6.129P2-GldcGt(EUCG0001d02)Hmgu
Cell Lines EUCG0001d02
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
GldcGt(EUCG0001d02)Hmgu mutation (0 available); any Gldc mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• premature lethality, with 55% dying between 2 and 12 weeks of age
• 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

growth/size/body
• 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

cardiovascular system
• swelling of the brain with evident hemorrhage

craniofacial
• hydrocephalus is characterized by enlargement of the cranium
• hydrocephalus is characterized by a dome-shaped appearance

embryo
• 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
• 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
• 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
• a proportion of embryos at E9.5-10.5 exhibit persistently open cranial neural folds
• neural tube remains open in 29% of embryos with 18 somites or more

homeostasis/metabolism
• glycine levels are elevated in the plasma by E11.5
• glycine levels are elevated in the urine by E11.5
• 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

nervous system
• swelling of the brain with evident hemorrhage
• 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
• 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
• a proportion of embryos at E9.5-10.5 exhibit persistently open cranial neural folds
• neural tube remains open in 29% of embryos with 18 somites or more
• a proportion of embryos display exencephaly
• 22% of mice develop hydrocephalus, mostly in females, characterized by a dome-shaped appearance of the head and enlargement of the cranium
• enlargement of the ventricles
• embryos that do not exhibit exencephaly show enlargement of the brain ventricles at E18.5

renal/urinary system
• glycine levels are elevated in the urine by E11.5

skeleton
• hydrocephalus is characterized by enlargement of the cranium
• hydrocephalus is characterized by a dome-shaped appearance

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
glycine encephalopathy DOID:9268 OMIM:605899
J:221782


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
08/13/2019
MGI 6.14
The Jackson Laboratory