Primary Identifier | MGI:88192 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 20586 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including ATP hydrolysis activity; DNA polymerase binding activity; and nucleic acid binding activity. Involved in several processes, including positive regulation of Wnt signaling pathway; positive regulation of cold-induced thermogenesis; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including blastocyst development; circulatory system development; and erythrocyte differentiation. Located in male germ cell nucleus and perichromatin fibrils. Part of chromatin. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Used to study breast cancer. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 4; hepatocellular carcinoma; lung non-small cell carcinoma; and rhabdoid cancer. Orthologous to human SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4). PHENOTYPE: Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. [provided by MGI curators] |