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Protein Coding Gene : Dnaaf1 dynein, axonemal assembly factor 1

Primary Identifier  MGI:1915520 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  68270
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Predicted to be located in cytosol; nuclear speck; and plasma membrane. Predicted to be active in axoneme. Is expressed in several structures, including genitourinary system; liver; node; nose; and spleen. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1).
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators]
  • synonyms:
  • 4930457P18Rik,
  • RIKEN cDNA 4930457P18 gene,
  • dynein, axonemal assembly factor 1,
  • Lrrc50,
  • m4Bei,
  • leucine rich repeat containing 50,
  • Dnaaf1,
  • mutation 4, David R Beier,
  • MGI:5505437

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