| Primary Identifier | MGI:2153568 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 170574 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables DEAD/H-box RNA helicase binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within osteoblast differentiation and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; facial prominence mesenchyme; genitourinary system; jaw; and skeleton. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 12. Orthologous to human SP7 (Sp7 transcription factor). PHENOTYPE: Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation. Mice homozygous for a knock-out allele exhibit failure of bone ossification. [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
