Primary Identifier | MGI:1920831 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 269209 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein serine/threonine kinase activity and transcription corepressor binding activity. Involved in several processes, including cilium assembly; positive regulation of smoothened signaling pathway; and smoothened signaling pathway. Acts upstream of or within brain development and epithelial cilium movement involved in extracellular fluid movement. Located in cytoplasm. Is expressed in several structures, including central nervous system; sensory organ; skeleton; spleen; and testis. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Orthologous to human STK36 (serine/threonine kinase 36). PHENOTYPE: Nullizygous mutations cause postnatal growth defects and lethality. Homozygotes for a null allele show hydrocephaly, cranial defects, otitis media and sterility. Homozygotes for another null allele show additional defects in lung and renal development, thymus and spleen atrophy, rhinitis and ataxia. [provided by MGI curators] |