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 8.0.0) Predicted to enable microtubule binding activity. 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 cerebral cortex ventricular layer; 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] |