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Protein Coding Gene : Dync2h1 dynein cytoplasmic 2 heavy chain 1

Primary Identifier  MGI:107736 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  110350
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including central nervous system development; cilium organization; and regionalization. Located in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including brain ventricular layer; cerebral cortex; olfactory epithelium; and secondary heart field. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1).
PHENOTYPE: Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, dorsoventral forebrain patterning defects, micrognathia, and cardiac, renal, airway and eye defects may be observed. [provided by MGI curators]
  • synonyms:
  • b2b414Clo,
  • 4432416O06Rik,
  • m407Asp,
  • D030010H02Rik,
  • m152Asp,
  • MGI:2143052,
  • AI448217,
  • D330044F14Rik,
  • Mutant line 414,
  • MGI:2445078,
  • dynein cytoplasmic 2 heavy chain 1,
  • Dync2h1,
  • MGD-MRK-36312,
  • MGI:2444284,
  • DHC1b,
  • MGI:3799294,
  • RIKEN cDNA 4432416O06 gene,
  • RIKEN cDNA D330044F14 gene,
  • MGI:5311337,
  • mutation 407, Andrew S Peterson,
  • MGI:1924297,
  • expressed sequence AI448217,
  • MGI:3799279,
  • dynein, cytoplasmic, heavy chain 2,
  • Dnchc2,
  • RIKEN cDNA D030010H02 gene,
  • DHC2,
  • mutation 152, Andrew S Peterson

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