Complete rescue of the <i>DnaJC11^spc/spc</i> phenotype through expression of the human <i>DnaJC11</i> gene.

<p>(A) Schematic representation of the human BAC clone fragment that was used for the generation of Tg<i>huDnaJC11</i> mice. Genes and their orientation are indicated as well as NotI sites that were used for digestion. Horizontal line and number below represent the fragment length. (B) Copy number determination, by qPCR, of three transgenic lines, TgF843, TgF867, and TgF869 (n = 5-9 per group) using a primer pair common for both mouse and human <i>DnaJC11</i> genes. WT mice were considered to carry 2 copies of <i>DnaJC11</i>. (C) Body weight and (D) grip strength (normalized to body weight) curves for the indicated genotypes. All mice used were sex matched littermates, (n = 8). (E) Rescue of the thymic hypoplasia shown as total thymic cellularity, (n = 3). (F) Restoration of thymic subpopulations distribution in rescued mice (n = 3) as determined by flow cytometry after staining with antibodies against CD4 and CD8. Statistical analysis between controls and rescued (Tg/<i>DnaJC11^spc/spc</i>) mice is indicated. DP, double positive; DN, Double Negative. (G) Restoration of splenic subpopulations distribution in rescued mice. B cells and myeloid cells were defined as the ones positive for markers B220 and CD11b respectively, (n = 3). (H) Restoration of the leucopenia phenotype and the increased red blood cell phenotype in rescued mice (n = 3). Data represent means ± SE.