Chromosome Translocation (T(2;4)1 Sn)-Induced Neural Tube Defects in the Mouse Embryo

Neural tube closure was studied in embryos obtained from matings of male mice heterozygous for a reciprocal chromosome translocation (T(2;4)1 Sn) with normal female (CFLP) mice. When litters were examined on the 9th to 12th days of gestation, there was a high incidence of resorption, developmental delay and neural tube closure defects in these embryos. SEM observations indicated that the neural tube closure defects ranged in severity from a side-to-side flattening of the midbrain to extensive anomalies in which the entire cephalic neural tube had failed to close. In addition to cephalic defects, a number of embryos exhibited open defects or abnormal subectodermal blebbing in the future lumbosacral region. In spinal regions, even in areas in which the neural tube had previously closed, it often was irregular and folded. These observations are discussed in relation to studies of gene-related defects of neural tube closure.