| Primary Identifier | MGI:1334448 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12316 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables calmodulin binding activity. Involved in regulation of meiotic cell cycle. Acts upstream of or within several processes, including maintenance of centrosome location; nervous system development; and neuronal stem cell population maintenance. Located in cytoplasm; microtubule cytoskeleton; and midbody. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; nervous system; and perichondrium. Used to study microcephaly. Human ortholog(s) of this gene implicated in microcephaly; primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 5; and visual epilepsy. Orthologous to human ASPM (assembly factor for spindle microtubules). PHENOTYPE: Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes. [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
