| Primary Identifier | MGI:104555 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16658 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 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 abducens nerve formation; cornified envelope assembly; and negative regulation of osteoclast differentiation. Acts upstream of or within several processes, including T cell differentiation in thymus; brain development; and thymus development. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Duane retraction syndrome and multicentric carpotarsal osteolysis syndrome. Human ortholog(s) of this gene implicated in Duane retraction syndrome and multicentric carpotarsal osteolysis syndrome. Orthologous to human MAFB (MAF bZIP transcription factor B). PHENOTYPE: Mutant homozygotes exhibit segmentation defects in the caudal hindbrain, loss of facial motor neurons, impaired inner ear development, arrested maturation of kidney podocytes, reduced fertility, and, in some cases, lethality at birth from apnea. Homozygous KO mice die shortly after birth. [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
