In Tg2576 mice expression of mutant huAPP increased spine density in CA1 and cortical neurons of young mice prior to plaque deposition possibly via APPsα, whereas spine density was decreased in aged animals, presumably due to Aβ-mediated synaptotoxic effects [ 16, 17].
In Tg-FDD mice, expression of the Danish mutant form of BRI 2 driven by the moPrnp promoter is sufficient for the development of CAA.
In mice, expression of the R49C αA-crystallin mutant protein in the presence of the neor gene causes posterior cataracts with posterior migration of epithelial cell nuclei, and demonstrates that the mutant protein affects the integrity of lens fiber cells in the deep cortex.
Moreover, in the case of Prp-TDP43A315T, the transgene consists of a mouse expression cassette (Prnp) harbouring a human mutant TDP43 cDNA.
In cultured cells (11, 29, 34– 38), flies (21, 25, 39) and mice (40), expression of mutant VAPB causes cytoplasmic inclusions, which also recruit the WT form into the inclusions (25, 29).
Expression of the transgene in islet lysates from WT and transgenic mice demonstrated expression of the mutant protein (40 Kd band) only in caCnRIP mice (Figure 1B).
In mutant mice, the expression profiles of Nrf2, MnSOD, catalase and Hmox1 were different.
In mice embryos mutant for dmrt2 the expression of spaw and pitx2 was restricted to the left LPM and consistently we observed a correct LR disposition of all the internal organs.
While one study observed an increase in TP53 expression in mouse Dkc1 mutant cells after etoposide exposure (Gu et al, 2008), another reported a decrease, both in mouse cells and human B lymphocyte lines bearing dyskerin mutations, due to an impairment in internal ribosome entry site (IRES -mediated TP53 translatIRES -mediatedTP53, 2010).
Although strong immunoreactivity with an otoferlin-specific antibody was detected in cochlear hair cells of wildtype mice, no expression was detected in mutant mice, indicating that the missense mutation has a severe effect on the stability of the protein and potentially its localization.
We first confirmed activation of PERK-eIF2α signalling in rTg4510 mice due to mutant tau expression.
