| Primary Identifier | MGI:1858233 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 53885 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including photoreceptor cell outer segment organization; retina development in camera-type eye; and spermatid differentiation. Located in ciliary base; cytoplasm; and photoreceptor distal connecting cilium. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and white fat. Used to study nephronophthisis 1. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor 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
