| 30931 | Q9ER39 | TOR1A_MOUSE | Torsin-1A (Dystonia 1 protein) (Torsin ATPase 1) (EC 3.6.4.-) (Torsin family 1 member A) | DISRUPTION PHENOTYPE | Animals fail to feed or vocalize and die within 48 hours of birth. At 18 dpc, the global structure of the central nervous system is normal. However, at the cellular level, nuclear envelope abnormalities, with membranous vesicle-appearing structures in the perinuclear space, are observed in multiple areas of the central nervous system, including neurons of the spinal cord, pons, frontal cortex, and hippocampus. {ECO:0000269|PubMed:16364897, ECO:0000269|PubMed:20457914}. |