| Primary Identifier | MGI:1934157 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 56542 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables protein serine/threonine kinase activity. Involved in cilium assembly; intraciliary anterograde transport; and intraciliary retrograde transport. Located in several cellular components, including ciliary basal body; ciliary base; and ciliary tip. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and nervous system. Used to study endocrine-cerebro-osteodysplasia syndrome. Human ortholog(s) of this gene implicated in endocrine-cerebro-osteodysplasia syndrome and juvenile myoclonic epilepsy 10. Orthologous to human CILK1 (ciliogenesis associated kinase 1). PHENOTYPE: Mice homozygous for a null allele exhibit abnormal primary cilium morphology and Shh signaling during limb digit patterning, peripheral edema, cleft palate, hydrocephalus, polydactyly, delayed skeletal development, and embryonic lethality at late stages of gestation. [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
