Rabbit paralytic tremor phenotype- A plp1 gene mutation as a model of human Pelizaeus-Merzbacher disease

• Authors: J. Sypecka , K. Domanska-Janik
• Languages of publication: EN

Abstracts

EN

The paralytic tremor (pt) disease in rabbits results from a point mutation in a plp gene and manifests itself by a broad range of neurological signs. Biochemical studies have shown that myelinogenesis is retarded and deficient in mutant rabbits. Myelin sheaths are usually thin and malformed. The number of oligodendrocytes is normal, however their differentiation and maturation is prolonged. The effects of the pt mutation were investigated in morphological, biochemical and molecular studies, resulting in the well-documented characteristics of the disease. The pt phenotype and its detailed characteristics make the mutated rabbit a good model of Pelizaeus-Merzbacher disease.

Keywords

EN

HYPOMYELINATION; MUTATION; PARALYTIC TREMOR; PLP GENE; RABBIT

Discipline

• EXPERIMENTAL_BIOLOGY_&_MEDICINE: EXPERIMENTAL BIOLOGY & MEDICINE

• Publisher: Marceli Nencki Institute of Experimental Biology, Polish Academy of Sciences
• Journal: Acta Neurobiologiae Experimentalis
• Year: 2005
• Volume: 65
• Issue: 2
• Pages: 221-230

Contributors

author

J. Sypecka

author

K. Domanska-Janik

• Document Type: REVIEW
• Publication order reference: Joanna Sypecka, Department of Neurorepair, Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland