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Protein Coding Gene : Dnaaf2 dynein, axonemal assembly factor 2

Primary Identifier  MGI:1923566 Organism  mouse, laboratory
Chromosome  12 NCBI Gene Number  109065
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Acts upstream of or within several processes, including axonemal dynein complex assembly; establishment of left/right asymmetry; and response to retinoic acid. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; egg cylinder; genitourinary system; and sensory organ. Used to study primary ciliary dyskinesia 10. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 10. Orthologous to human DNAAF2 (dynein axonemal assembly factor 2).
PHENOTYPE: Homozygotes for a null allele show postnatal lethality, small body size, situs inversus totalis, hydrocephaly and loss of ciliary motility in tracheal and ventricular epithelia. Embryos homozygous for another null allele are lethal, do not progress past E9.5, and show left-right patterning defects. [provided by MGI curators]
  • synonyms:
  • 1110034A24Rik,
  • MGI:1917189,
  • expressed sequence AV032410,
  • RIKEN cDNA 2810020C19 gene,
  • dynein, axonemal assembly factor 2,
  • Dnaaf2,
  • 2810020C19Rik,
  • kintoun,
  • MGI:2144978,
  • AV032410,
  • Ktu,
  • RIKEN cDNA 1110034A24 gene

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