Primary Identifier | MGI:1921612 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 74362 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in intramanchette transport; manchette assembly; and motile cilium assembly. Acts upstream of or within axonemal central apparatus assembly; epithelial cilium movement involved in extracellular fluid movement; and establishment of localization in cell. Located in Golgi apparatus; acrosomal vesicle; and cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; nasal cavity respiratory epithelium; respiratory system; and spinal cord. Human ortholog(s) of this gene implicated in spermatogenic failure 55. Orthologous to human SPAG17 (sperm associated antigen 17). PHENOTYPE: Nullizygous mice show immotile respiratory cilia, impaired mucociliary clearance, respiratory distress, pulmonary edema, disrupted alveolar epithelia, hydrocephaly and neonatal death. Males show sterility, oligospermia, immotile sperm, abnormal sperm head and tails, and altered manchette structure. [provided by MGI curators] |