A recently described transgenic mouse model carrying the D4Z4 array of the FSHD allele developed progressive keratitis of unknown etiology resulting in blindness, supporting the possibility of extramuscular inflammation [19].
In a FHM2 KI mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene, in vivo analysis of CSD in heterozygous F Atp1a2 (+/R887) mutants revealed a decreased induction threshold and an increased velocity of propagation.
In order to further confirm the role of Nod2 in the susceptibility to Yersinia infection, we used an additional mouse model carrying the mutation homologous to the CD associated frame-shift mutation 1007fs (Nod2mt/mt) [18].
Another mouse model carrying the Swedish mutated human APP and the PS1 (A246E) transgenes showed that LTP in vitro in area CA1 was unaffected, and in vivo LTP the dentate gyrus was only slightly effected in 18 months old mice [9].
In this study, we applied Vivo-Morpholino to the hDMD/mdx mouse, a transgenic model carrying the full-length human dystrophin gene with mdx background, and achieved for the first time more than 70% efficiency of targeted human dystrophin exon skipping in vivo systemically.
Therefore, we generated a transgenic knock-in mouse model carrying the retrotransposal insertion in fukutin.
