| Primary Identifier | MGI:102567 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 18185 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables DNA-binding transcription factor activity and promoter-specific chromatin binding activity. Acts upstream of or within positive regulation of gene expression; positive regulation of transcription by RNA polymerase II; and retinal rod cell development. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in nucleus. Is expressed in eye. Used to study Leber congenital amaurosis 10 and enhanced S-cone syndrome. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 27. Orthologous to human NRL (neural retina leucine zipper). PHENOTYPE: Homozygotes for a targeted null mutation exhibit a retinal defect causing loss of rod function, exaggerated cone function, short, sparse outer segments, and abnormal disks. [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
