RGD Reference Report - The VF rat with abnormal myelinogenesis has a mutation in Dopey1. - Rat Genome Database

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The VF rat with abnormal myelinogenesis has a mutation in Dopey1.

Authors: Tanaka, Miyuu  Izawa, Takeshi  Yamate, Jyoji  Franklin, Robin J M  Kuramoto, Takashi  Serikawa, Tadao  Kuwamura, Mitsuru 
Citation: Tanaka M, etal., Glia. 2014 Sep;62(9):1530-42. doi: 10.1002/glia.22698. Epub 2014 May 24.
RGD ID: 40818080
Pubmed: PMID:24863653   (View Abstract at PubMed)
DOI: DOI:10.1002/glia.22698   (Journal Full-text)

The vacuole formation (VF) rat is an autosomal recessive myelin mutant characterized by generalized tremor, hypomyelination, and periaxonal vacuole formation of the central nervous system (CNS). Here, we report the most likely causative gene for neurological disease in the VF rat and pursue its roles in the development and maintenance of the CNS myelin. We identified a nonsense mutation in the dopey family member 1 (Dopey1) located on rat chromosome 8. Expression level of Dopey1 mRNA was decreased and DOPEY1 protein was undetectable both in the white and gray matter of the spinal cords in the VF rats. Double immunohistochemistry demonstrated that DOPEY1 was mainly expressed in neurons and oligodendrocytes in the wild-type rats, whereas no positive cells were detected in the VF rats. We also demonstrated a marked reduction in myelin components both at mRNA and protein levels during myelinogenesis in the VF rats. In addition, proteolipid protein and myelin-associated glycoprotein accumulated in oligodendrocyte cell body, suggesting that Dopey1 is likely to be involved in the traffic of myelin components. Our results highlighted the importance of Dopey1 for the development and maintenance of the CNS myelin.

Gene Ontology Annotations    

Cellular Component

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Dop1a  (DOP1 leucine zipper like protein A)

VF/Kyo  (vacuole formation rat)

Additional Information