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Protein Coding Gene : Ccdc39 coiled-coil domain containing 39

Primary Identifier  MGI:1289263 Organism  Mus musculus
Chromosome  3 NCBI Gene Number  51938
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.0)

Involved in several processes, including cerebrospinal fluid circulation; establishment of left/right asymmetry; and inner dynein arm assembly. Localizes to 9+2 motile cilium and cytosol. 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. Is expressed in bronchus and central nervous system. Orthologous to human CCDC39 (coiled-coil domain containing 39).
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:
  • DNA segment, Chr 3, ERATO Doi 789, expressed,
  • MGI:5438051,
  • D3Ertd789e,
  • Mutant line 1735,
  • progressive hydrocephalus,
  • AI447426,
  • expressed sequence AI447426,
  • b2b1304Clo,
  • Ccdc39,
  • 4921507O14Rik,
  • MGI:2139809,
  • prh,
  • expressed sequence AI844750,
  • RIKEN cDNA 4921507O14 gene,
  • b2b1735Clo,
  • MGI:5056360,
  • MGI:5316773,
  • Mutant line 2025.1,
  • MGI:2139706,
  • MGI:1914785,
  • MGI:5554524,
  • b2b2025.1Clo,
  • AI844750,
  • coiled-coil domain containing 39,
  • Mutant line 1304

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1 Involved In Mutations

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0 Transgenic Expressors

0 UTRs

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Canonical gene --> Transcripts in specific strains.

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238 Targeted By

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