| Primary Identifier | MGI:2684927 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 219103 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including gamma-tubulin binding activity; identical protein binding activity; and transcription coactivator activity. Acts upstream of or within organelle assembly; positive regulation of non-motile cilium assembly; and smoothened signaling pathway. Located in centriole and ciliary basal body. Is expressed in several structures, including brain; foregut; sensory organ; submandibular gland primordium; and tooth. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 4; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 6. Orthologous to human CENPJ (centromere protein J). PHENOTYPE: Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. [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
