Abnormal neural fold development in mouse trisomy 12 and trisomy 14. II. LM and TEM.

LM and TEM observations of embryonic tissue during the period of cranial neurulation are described in trisomic mouse embryos known to develop exencephaly, and are compared with tissue from normal mouse embryos. The earliest regularly observed differences were visible from the late presomite stage onwards, in the extracellular matrix of the cranial region. These were local defects of the basement membrane of the neural epithelium and enlarged areas of mesenchymal extracellular matrix, with associated abnormalities of mesenchymal cell distribution, cell number and cell contacts, and deficiency of alcian blue staining. Apical neuroepithelial microfilament bundles were observed at later somite-stages in trisomic embryos c.f. = compared with controls, and development of the concave neuroepithelial curvature was correspondingly retarded. Apposition of the neural folds at the forebrain/midbrain junction was never made, even though late neural fold fusion occurred in the hindbrain and ventral forebrain. At later stages (9-20 somites) the neuroepithelial cells showed pyknotic nuclei and dense intracellular inclusions. These are interpreted as secondary effects.