| Primary Identifier | MGI:1925230 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 77980 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within spermatogenesis. Predicted to be located in nuclear body. Predicted to be active in cytoplasm and membrane. Is expressed in craniocervical region bone; nervous system; and neural retina. Used to study Charcot-Marie-Tooth disease type 4B3. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B3. Orthologous to human SBF1 (SET binding factor 1). PHENOTYPE: Male homozygotes for a targeted null mutation exhibit male infertility associated with azoospermia, vacuolation of Sertoli cells, reduced spermatid formation, and eventual depletion of germ cells. [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
