Primary Identifier | MGI:2442760 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233865 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within cerebrospinal fluid circulation. Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Is expressed in central nervous system; retina inner nuclear layer; and retina outer nuclear layer. Used to study Joubert syndrome 26. Human ortholog(s) of this gene implicated in Joubert syndrome 26. Orthologous to human KATNIP (katanin interacting protein). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators] |