Primary Identifier | MGI:1923566 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 109065 |
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 dynein complex assembly; establishment of left/right asymmetry; and response to retinoic acid. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; egg cylinder; genitourinary system; and sensory organ. Used to study primary ciliary dyskinesia 10. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 10. Orthologous to human DNAAF2 (dynein axonemal assembly factor 2). PHENOTYPE: Homozygotes for a null allele show postnatal lethality, small body size, situs inversus totalis, hydrocephaly and loss of ciliary motility in tracheal and ventricular epithelia. Embryos homozygous for another null allele are lethal, do not progress past E9.5, and show left-right patterning defects. [provided by MGI curators] |