Primary Identifier | MGI:99851 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 12400 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to sequence-specific DNA binding activity. Involved in negative regulation of CD4-positive, alpha-beta T cell differentiation; negative regulation of transcription by RNA polymerase II; and positive regulation of CD8-positive, alpha-beta T cell differentiation. Acts upstream of or within several processes, including hemopoiesis; osteoblast differentiation; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in acute myelomonocytic leukemia. Orthologous to human CBFB (core-binding factor subunit beta). PHENOTYPE: Homozygous null mutant embryos exhibit massive CNS hemorrhaging, impaired definitive hematopoiesis, and death around E12.5. Homozygotes for a hypoplastic mutation are born at normal ratios but die soon after birth. Delayed skeletal development leaves bones poorly ossified and hypoplastic at birth. [provided by MGI curators] |