Primary Identifier | MGI:2685418 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230909 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within determination of left/right symmetry and heart development. Is expressed in several structures, including alimentary system; genitourinary system; and trachea. Used to study Kartagener syndrome; primary ciliary dyskinesia; and visceral heterotaxy. Orthologous to human C1orf127 (chromosome 1 open reading frame 127). PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators] |