The curly-tail mouse: an experimental model for human neural tube defects

Many aspects of the open lesions of the neural tube observed in the curly-tail mice are similar to those seen in man. In the mouse, the cause of the defects is a recessive gene, the expression of which is modified by the rest of the genome. A marked interaction between genetic and environmental factors was also observed in this strain of mice, thus suggesting that it represents a useful model to investigate the origin of the neural tube defects (NTD) in man. In the mutant strain, the interaction between the curly-tail gene and the environmental factors has been investigatigated using known teratogenic compounds, as well as hormones and vitamins, which it was hoped would prevent the malformations. An intriguing result was to observe that, while, as expected, excess of vitamin A increases the incidence of NTD, low doses, given at a particular stage of gestation, prevent the manifestation of the abnormalities.To investigate further the interaction between genetic and environmental factors and to provide some insight into the mechanisms underlying NTD in man, the effects of Trypan blue, hydroxyurea, progesterone, cortisone and vitamin E were also investigated in curly-tail mice and the results reported in this review.