Phenotypes Associated with This Genotype

Genotype
MGI:3629215

• Allelic Composition: Mpi^{Gt(OST90588)Lex}/Mpi^{Gt(OST90588)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:109220 )

• die around E11.5 - E13.5

• embryos from females given water with 10% mannose are all lost by E11.5

embryo

abnormal vitelline vasculature morphology ( J:109220 )

• abnormal in 90% of embryos

absent vitelline blood vessels ( J:109220 )

• in all group 2 embryos

increased embryonic tissue cell apoptosis ( J:109220 )

• seen throughout group 2 embryos at E11.5; however in group 1 embryos only a slight increase in apoptosis is seen in the neural mesenchyme and liver primordium

delayed embryo turning ( J:109220 )

• at E9.5 group 2 embryos have not turned

• by E11.5 some but not all of group 2 embryos are completely turned

caudal body truncation ( J:109220 )

• posterior axial truncation is seen in all group 2 embryos at E11.5

embryonic growth retardation ( J:109220 )

• at E9.5 all embryos are growth retarded with group 1 embryos resembling wild-type embryos at E9.0 and group 2 embryos resembling unturned E8.5 wild-type embryos

• at E11.5, group 1 embryos resemble E10.0 - E10.5 wild-type embryos and group 2 embryos (about 35% of all embryos) resemble E8.5 - E9.0 wild-type embryos

abnormal placenta morphology ( J:109220 )

• group 1 embryos complete chorioallantoic fusion but display decreased lateral extension, increased placental bed thickness, and overall disorganization of the placenta

abnormal placenta labyrinth morphology ( J:109220 )

• hypertrophy of the labyrinthine layers, but to a lesser extent than in the trophoblast

abnormal trophoblast layer morphology ( J:109220 )

• hypertrophy of the trophoblast giant cells

abnormal spongiotrophoblast layer morphology ( J:109220 )

• hypertrophic

abnormal chorioallantoic fusion ( J:109220 )

• seen in all group 2 embryos at E11.5

growth/size/body

embryonic growth retardation ( J:109220 )

• at E9.5 all embryos are growth retarded with group 1 embryos resembling wild-type embryos at E9.0 and group 2 embryos resembling unturned E8.5 wild-type embryos

• at E11.5, group 1 embryos resemble E10.0 - E10.5 wild-type embryos and group 2 embryos (about 35% of all embryos) resemble E8.5 - E9.0 wild-type embryos

cardiovascular system

abnormal vascular development ( J:109220 )

• in group 2 embryos fragmented vessels are seen throughout the embryo

abnormal angiogenesis ( J:109220 )

• in group 1 embryos blood vessels in the head display premature termination; however development of the cephalic primitive vascular plexus and overall vascular patterning appear normal

abnormal vitelline vasculature morphology ( J:109220 )

• abnormal in 90% of embryos

absent vitelline blood vessels ( J:109220 )

• in all group 2 embryos

cellular

abnormal cell physiology ( J:109220 )

• a 50% decrease in ATP content and a 10-fold increase in mannose 6-phosphate are detected at E10.5 in embryos from females that are not supplemented with mannose

• exposure of MEFs to 500 uM mannose reduces ATP concentration

increased embryonic tissue cell apoptosis ( J:109220 )

• seen throughout group 2 embryos at E11.5; however in group 1 embryos only a slight increase in apoptosis is seen in the neural mesenchyme and liver primordium

abnormal cell proliferation ( J:109220 )

• MEFs are unable to grow in 20% fetal bovine serum without the addition of 20 uM mannose; however addition of 100 uM of 500 uM decreases the growth rate of homozygous mMEFs, while none of these mannose concentrations alters the growth rate of wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	congenital disorder of glycosylation type I	DOID:0050570	OMIM:PS212065	J:109220