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Protein Coding Gene : Cntrl centriolin

Primary Identifier  MGI:1889576 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  26920
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable dynein complex binding activity. Acts upstream of or within circulatory system development; female germ-line stem cell asymmetric division; and kidney development. Located in meiotic spindle pole; mitotic spindle pole; and perinuclear region of cytoplasm. Is expressed in cerebral cortex ventricular layer; midbrain ventricular layer; and telencephalon ventricular layer. Used to study nephronophthisis. Orthologous to human CNTRL (centriolin).
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
  • synonyms:
  • Cntrl,
  • MGI:2138818,
  • centriolin,
  • centrosomal protein 1,
  • Cep1,
  • MGI:1349397,
  • RIKEN cDNA 6720467O09 gene,
  • Ma2a8,
  • b2b1468.1Clo,
  • b2b1468Clo,
  • IB3/5,
  • expressed sequence AA968343,
  • MGI:1925147,
  • antigen identified by monoclonal antibody 2A8,
  • 6720467O09Rik,
  • AA968343,
  • Cep110,
  • Mutant line 1468,
  • MGI:5438043,
  • centrosomal protein 110

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