Primary Identifier | MGI:3588207 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 436022 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within determination of left/right symmetry and heart development. Predicted to be located in cytoplasm. Is expressed in brain; lung; ovary; oviduct; and testis. Used to study Kartagener syndrome; primary ciliary dyskinesia 2; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 2. Orthologous to human DNAAF3 (dynein axonemal assembly factor 3). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators] |