Epigenetic mechanisms have also been implicated in folate deficiency-related neural tube defect mouse model Splotch, which carries a loss of function mutation in Pax3. In cells from caudal neural tubes of Pax3 mutant embryos, the expression of the histone demethylases KDM6B decreases and the cells exhibit increased H3K27 methylation [41]. The gene discussed is KDM6B; the disease is folate deficiency.