LTP was reduced and LTD was augmented in comparison to diploid controls in the isolated hippocampus of Ts65Dn and Ts1Cje, two DS murine models carrying a partial trisomy 16 encompassing the DYRK1A gene [38], [39], [40].
Further investigation in murine models carrying HTT transgenes including expanded repeats pointed to the fact that peripheral monocytes as well as alveolar macrophages, neither of which are thought to traffic through the CNS in homeostatic conditions [ 3], showed increased cytokine production in response to in vitro LPS stimulation [ 23].
However, the most utilized adult murine models carry the complete deletion of one or both the mouse β-globin genes, showing phenotypic features similar to those observed in β-thalassemia intermedia patients [ 22, 23].
In this paper, we describe a murine model carrying an insertional mutation in Mbd5 generated through gene-trap mutagenesis.
In this study, we investigated the effects of defective PPARγ function on the development of cardiac fibrosis and hypertrophy in a murine model carrying a human dominant-negative mutation in PPARγ.
The humanized murine models (mice carrying functioning human genes), generated by introduction of MHC, T-cell receptor (TCR), and costimulatory genes from humans into NOD/severe combined immunodeficiency disease (NOD/SCID) mice, constitute a great value for better understanding certain unexplored aspects of the human condition.
However, although there are multiple mouse models carrying different mutations in the murine GALNS homolog [Tomatsu et al., 2003; Tomatsu et al., 2005a; Tomatsu et al., 2007; Tomatsu et al., 2008; Tomatsu et al., 2010], mouse and human catabolism of KS differs and the murine model did not develop the dysostosis phenotype of Morquio A [Tomatsu et al., 2010].
Here, we show the beneficial potential of reframing titin transcripts by antisense oligonucleotide (AON -mediated exon skipping in human and murine models of DCM carrying a previously identified autosomal-dominant frameshift mutation in titin exon 326.
A transgenic mouse model carrying the missense mutation R122H in murine trypsin 4 displayed pancreatic fibrosis and acinar cell dedifferentiation with progressing age.
We have recently generated a mouse model carrying a mutation in the corresponding amino acid residue in the activation loop of the murine PDGFR-β; namely an exchange of asparagine for aspartic acid at amino acid position 849 (D849N).
Therefore, murine models of β-thalassemia, which carry a mutated human β-globin gene in combination with the presence of deletions of the mouse β-like globin genes can be an invaluable tool to test new therapeutic strategies.
