| 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 9.1.0) Predicted to enable guanyl-nucleotide exchange factor activity and protein-membrane adaptor 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
