| 67451 | Q9CQ73 | PKP2_MOUSE | Plakophilin-2 | DISRUPTION PHENOTYPE | Knockout mice die during embryogenesis (PubMed:15479741). Embryos show accumulation of blood in the pericardial and peritoneal cavities, and absence in the head, dorsal trunk and yolk sac at 10.75 dpc followed by a significant decrease in viable embryos at 11.5 dpc (PubMed:15479741). Embryonic heart formation is abnormal showing reduced trabeculation in the heart ventricles and thinning of the atria walls (PubMed:15479741). Loss of DSP and DSG2 localization at cell-cell junctions in cardiomyocytes, DSP localizes to granular aggregates in the cytoplasm which are surrounded by disordered swirls of intermediate filaments (PubMed:15479741). Loss of fascia adherens-like and desmosome-like cell junctions at the intercalated disks (PubMed:15479741). {ECO:0000269|PubMed:15479741}. |