Primary Identifier | MGI:2654144 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 236930 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA translocase activity. Predicted to be involved in DNA repair. Predicted to be located in kinetochore. Is expressed in several structures, including adrenal medulla; liver; lung; nervous system; and trunk. Orthologous to human ERCC6L (ERCC excision repair 6 like, spindle assembly checkpoint helicase). PHENOTYPE: Male mice hemizygous for a kncok-out allele exhibit chromosomal instability, Trp53 activation, increased embryonic tissue cell and brain apoptosis, developmental arrest and complete embryonic lethality, whereas heterozygous females are born at sub-Mendelian ratios and show reduced female fertility. [provided by MGI curators] |