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Protein Coding Gene : Hydin HYDIN, axonemal central pair apparatus protein

Primary Identifier  MGI:2389007 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  244653
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 central apparatus assembly; trachea development; and ventricular system development. Located in axonemal central pair projection. Is expressed in choroid invagination; diencephalon roof plate; medulla oblongata part of 4th ventricle choroid plexus; and metencephalon part of 4th ventricle choroid plexus. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 5. Orthologous to human HYDIN (HYDIN axonemal central pair apparatus protein).
PHENOTYPE: Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age. [provided by MGI curators]
  • synonyms:
  • 4930545D19Rik,
  • MGI:96295,
  • hydrocephalus 3,
  • MGI:1922491,
  • HYDIN, axonemal central pair apparatus protein,
  • MGI:1923961,
  • MGI:2157966,
  • AC069308.21, gene model 4,
  • RIKEN cDNA 1700034M11 gene,
  • hy-3,
  • MGD-MRK-11029,
  • Hydin,
  • hyrh,
  • hydrocephalus with rhinitis,
  • AC069308.21gm4,
  • hy3,
  • MGI:3801607,
  • MGD-MRK-11026,
  • 1700034M11Rik,
  • RIKEN cDNA 4930545D19 gene

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