Primary Identifier | MGI:2389007 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 244653 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including axonemal central apparatus assembly; trachea development; and ventricular system development. Located in axonemal central pair projection. Is expressed in choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 5. Orthologous to human HYDIN (HYDIN axonemal central pair apparatus protein). PHENOTYPE: Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age. [provided by MGI curators] |