| 79456 | Q75NR7 | RECQ4_MOUSE | ATP-dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ-like type 4) (RecQ4) (RecQ protein-like 4) | DISRUPTION PHENOTYPE | Early embryonic lethality. Transgenic mice with exon 13-deleted RECQL4 are severely growth-retarded and show high (95%) perinatal lethality. They exhibit various skin, bone, intestine, tooth and thymus abnormalities and premature aging features, but have normal sensitivity to IR and UV irradiation. In contrast, transgenic mice expressing a truncated form of RECQL4 exhibit mild perinatal lethality, no growth defect, but show defects of the skin and skeleton, aneuploidy and increased cancer susceptibility. {ECO:0000269|PubMed:12915449, ECO:0000269|PubMed:15703196}. |