| 224826 |
Q6WKZ8 |
UBR2_MOUSE |
E3 ubiquitin-protein ligase UBR2 (EC 2.3.2.27) (N-recognin-2) (RING-type E3 ubiquitin transferase UBR2) (Ubiquitin-protein ligase E3-alpha-2) (Ubiquitin-protein ligase E3-alpha-II) |
DISRUPTION PHENOTYPE |
Male mice are viable but not fertile, due to massive apoptosis of spermatocytes. They have a reduction of testis weight of 68% and no detectable sperm in their epididymis. The seminiferous tubules contain reduced numbers of post-meiotic round, elongated spermatids and accumulation of pyknotic and zygotene-like nuclei. Female mice show severe prenatal lethality, but the rare surviving are fertile. Fibroblast cells display spontaneous chromosome instability and fragility (PubMed:14585983, PubMed:16488448, PubMed:28708824). UBR1 and UBR2 double knockout embryos die at midgestation, with defects in neurogenesis and cardiovascular development. These defects included reduced proliferation as well as precocious migration and differentiation of neural progenitor cells (PubMed:16606826). {ECO:0000269|PubMed:14585983, ECO:0000269|PubMed:16488448, ECO:0000269|PubMed:16606826, ECO:0000269|PubMed:28708824}. |