| Primary Identifier | MGI:1931028 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 79456 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity and DNA helicase activity. Acts upstream of or within several processes, including negative regulation of sister chromatid cohesion; positive regulation of cell population proliferation; and skeletal system morphogenesis. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be active in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including Harderian gland; alimentary system; immune system; male reproductive gland or organ; and nervous system. Used to study Rothmund-Thomson syndrome. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4). PHENOTYPE: Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
