| Primary Identifier | MGI:1923714 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 76464 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in homologous chromosome orientation in meiotic metaphase I and positive regulation of meiosis I spindle assembly checkpoint. Located in cytoplasm and kinetochore. Is expressed in telencephalon and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 4; and sarcoma. Orthologous to human KNL1 (kinetochore scaffold 1). PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for a conditional allele activated in NPCs exhibit postnatal and premature death and microcephaly associated with NPC apoptosis and premature differentiation. [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
