| Primary Identifier | MGI:2443664 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 68750 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of brown fat cell differentiation. Acts upstream of or within negative regulation of DNA-templated transcription. Predicted to be located in fibrillar center and nuclear speck. Predicted to be active in nucleus. Is expressed in alimentary system; central nervous system; and genitourinary system. Used to study RASopathy. Orthologous to human RREB1 (ras responsive element binding protein 1). PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E9.5. Heterozygotes exhibit smaller stature, orbital hypertelorism, wider blunted nose, cardiac hypertrophy and decreased cardiac function. A spontaneous hypomorph that disrupts only the V7 transcript causes progressive Purkinje cell degeneration. [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
