| Primary Identifier | MGI:1100513 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16917 |
| 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, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including memory; olfactory behavior; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including collagen fibril organization; nervous system development; and trabecular meshwork development. Located in nucleus. Is expressed in several structures, including central nervous system; embryo ectoderm; embryo mesenchyme; limb; and limb bud. Used to study Parkinson's disease and nail-patella syndrome. Human ortholog(s) of this gene implicated in nail-patella syndrome. Orthologous to human LMX1B (LIM homeobox transcription factor 1 beta). PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [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
