Recently, a phenotypic model of FD in which IKBKAP mRNA splicing andexpression can be modulated was generated by introducing the complete humanIKBKAP gene (BAC transgene) with the major FD splice mutation(TgFD9; Hims et al.,2007) into the IkbkapΔ20/flox mouse model. The gene discussed is ELP1; the disease is Fabry disease.