| 13205 |
Q62167 |
DDX3X_MOUSE |
ATP-dependent RNA helicase DDX3X (EC 3.6.4.13) (D1Pas1-related sequence 2) (DEAD box RNA helicase DEAD3) (mDEAD3) (DEAD box protein 3, X-chromosomal) (Embryonic RNA helicase) |
DISRUPTION PHENOTYPE |
In mutant males, loss of DDX3X leads to early post-implantation lethality. In mutant females with a maternally inherited Ddx3x null allele, paternal X chromosome inactivation affects trophoblast differentiation, which leads to aberrant placental layers and defective vascularization in placental labyrinth. These placental abnormalities impair maternal blood supply to the embryo and ultimately lead to fetal growth restriction and lethality. Heterozygous females with a paternally inherited null allele are born at the expected Mendelian ratio, develop normally and are indistinguishable from their littermate controls (PubMed:27179789). Epiblast-specific knockout embryos exhibit multiple anomalies, including defective neural tube closure, underdeveloped brain, poorly developed myocardial trabeculae, which ultimately lead to embryonic lethality around 11.5 dpc (PubMed:27179789). DDX3X and DDX3Y double knockout is embryonic lethal (PubMed:30613052). DDX3X and DDX3Y double knockout germ cells can differentiate into spermatozoa (PubMed:30613052). Bone-marrow macrophage-specific knockout leads to a reduction in the expression of several cytokines, including IL1B, IL6, IL12 and IFNB1, in response to Listeria monocytogenes infection and pathogen-associated molecular patterns (PAMPs), including poly (I:C), poly (dA:dT) and LPS. This effect is more prononced in females than in male macrophages, probably due to the functional redundancy with DDX3Y gene located on chromosome Y (PubMed:30475900). {ECO:0000269|PubMed:27179789, ECO:0000269|PubMed:30475900, ECO:0000269|PubMed:30613052}. |