| Primary Identifier | MGI:2679336 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 212712 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and chromatin binding activity. Acts upstream of or within several processes, including osteoblast development; regulation of transcription by RNA polymerase II; and skeletal system development. Located in nucleus. Part of histone deacetylase complex and transcription regulator complex. Is expressed in several structures, including 1st branchial arch; facial prominence; genitourinary system; limb; and telencephalon. Used to study isolated cleft palate. Human ortholog(s) of this gene implicated in SATB2-associated syndrome. Orthologous to human SATB2 (SATB homeobox 2). PHENOTYPE: Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function. [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
