| Primary Identifier | MGI:2384875 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 214444 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including calmodulin binding activity; protein kinase binding activity; and tubulin binding activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of centriole replication; and nervous system development. Located in centrosome and mitotic spindle pole. Is expressed in central nervous system and retina. Used to study microcephaly. Human ortholog(s) of this gene implicated in Seckel syndrome; microcephaly; and primary autosomal recessive microcephaly 3. Orthologous to human CDK5RAP2 (CDK5 regulatory subunit associated protein 2). PHENOTYPE: Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. [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
