| Primary Identifier | MGI:102570 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 17986 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytokine activity and frizzled binding activity. Involved in Norrin signaling pathway; extracellular matrix-cell signaling; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including camera-type eye development; cell surface receptor signaling pathway; and nervous system development. Located in collagen-containing extracellular matrix. Is expressed in several structures, including brain and sensory organ. Used to study Norrie disease and exudative vitreoretinopathy. Human ortholog(s) of this gene implicated in Norrie disease; X-linked exudative vitreoretinopathy 2; and retinopathy of prematurity. Orthologous to human NDP (norrin cystine knot growth factor NDP). PHENOTYPE: Male mice in which this X-linked gene has been inactivated exhibit retinopathy similar to that observed in patients with Norrie Disease (ND). [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
