Mouse Genome Informatics
hm
    MpiGt(OST90588)Lex/MpiGt(OST90588)Lex
involves: 129S5/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die around E11.5 - E13.5
• embryos from females given water with 10% mannose are all lost by E11.5

embryogenesis
• abnormal in 90% of embryos
• in all group 2 embryos
• at E9.5 group 2 embryos have not turned
• by E11.5 some but not all of group 2 embryos are completely turned
• posterior axial truncation is seen in all group 2 embryos at E11.5
• group 1 embryos complete chorioallantoic fusion but display decreased lateral extension, increased placental bed thickness, and overall disorganization of the placenta
• seen in all group 2 embryos at E11.5
• hypertrophy of the labyrinthine layers, but to a lesser extent than in the trophoblast
• hypertrophy of the trophoblast giant cells
• 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

growth/size
• 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
• in group 2 embryos fragmented vessels are seen throughout the embryo
• 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 in 90% of embryos
• in all group 2 embryos

cellular
• 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
• 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 rpimordium
• 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
OMIM IDRef(s)
NOT Congenital Disorder of Glycosylation, Type IB; CDG1B 602579 J:109220