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Protein Coding Gene : Ccdc39 coiled-coil domain containing 39

Primary Identifier  MGI:1289263 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  51938
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Acts upstream of or within several processes, including cerebrospinal fluid circulation; establishment of left/right asymmetry; and inner dynein arm assembly. Located in 9+2 motile cilium and cytosol. Is expressed in several structures, including central nervous system; ileum; male reproductive gland or organ; respiratory system; and secondary heart field. Used to study Kartagener syndrome; hydrocephalus; primary ciliary dyskinesia 14; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 14. Orthologous to human CCDC39 (coiled-coil domain 39 molecular ruler complex subunit).
PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [provided by MGI curators]
  • synonyms:
  • MGI:5554524,
  • AI447426,
  • b2b2025.1Clo,
  • MGI:5438051,
  • D3Ertd789e,
  • Mutant line 1304,
  • Mutant line 1735,
  • AI844750,
  • 4921507O14Rik,
  • progressive hydrocephalus,
  • RIKEN cDNA 4921507O14 gene,
  • b2b1735Clo,
  • MGI:1914785,
  • Ccdc39,
  • DNA segment, Chr 3, ERATO Doi 789, expressed,
  • prh,
  • coiled-coil domain containing 39,
  • MGI:2139706,
  • MGI:5316773,
  • expressed sequence AI844750,
  • expressed sequence AI447426,
  • Mutant line 2025.1,
  • MGI:5056360,
  • b2b1304Clo,
  • MGI:2139809

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