Primary Identifier | MGI:1328362 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12144 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 3'-5' DNA helicase activity. Involved in G-quadruplex DNA unwinding; negative regulation of mitotic recombination; and replication fork processing. Acts upstream of or within several processes, including DNA metabolic process; T cell differentiation; and positive regulation of T cell proliferation. Located in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and mammary gland. Used to study Bloom syndrome. Human ortholog(s) of this gene implicated in Bloom syndrome. Orthologous to human BLM (BLM RecQ like helicase). PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators] |