OMIA 000770-9986 : Tremor, X-linked in Oryctolagus cuniculus

See the equivalent entry at NCBI

In other species: dog , pig

Possible human homologue (MIM number): 312080

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 1994

Species-specific description: This is an X-linked disorder that affects myelination of the central nervous system.

History: This disorder was first reported by Osetowska (1967).

Molecular basis: Building on the results of Tosic et al. (1993) that this disorder is primarily due to faulty expression of the proteolipid protein (PLP) gene, Tosic et al. (1994) sequenced PLP cDNA from normal and affected rabbits and showed that the disorder is due to a point mutation in exon 2 of the PLP gene, corresponding to the end of the first potential transmembrane domain of the protein. The mutation removes the recognition site for a restriction enzyme, thereby providing a simple genotyping test.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PLP1 proteolipid protein 1 Oryctolagus cuniculus X NC_013690.1 (86343582..86328213) PLP1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Tremor, X-linked PLP1 missense T>A 1994 7525875

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2006 Sypecka, J., Domańska-Janik, K. :
Phenotypic diversity resulting from a point mutation. Folia Neuropathol 44:244-50, 2006. Pubmed reference: 17183450.
2005 Papis, K., Sypecka, J., Korwin-Kossakowski, M., Wenta-Muchalska, E., Bilska, B. :
Banking of embryos of mutated, paralytic tremor rabbit by means of vitrification. Lab Anim 39:284-9, 2005. Pubmed reference: 16004687.
Sypecka, J., Domanska-Janik, K. :
Rabbit paralytic tremor phenotype--a plp1 gene mutation as a model of human Pelizaeus-Merzbacher disease. Acta Neurobiol Exp (Wars) 65:221-9, 2005. Pubmed reference: 15960310.
1997 Tosic, M., Matthey, B., Gow, A., Lazzarini, R.A., Matthieu, J.M. :
Intracellular transport of the DM-20 bearing shaking pup (shp) mutation and its possible phenotypic consequences. J Neurosci Res 50:844-52, 1997. Pubmed reference: 9418971.
1996 Sypecka, J. :
pt point mutation in plp gene results in hyperexpression of MOG in hypomyelinated rabbit. Acta Neurobiol Exp (Wars) 56:9-14, 1996. Pubmed reference: 8787215.
Tosic, M., Gow, A., Dolivo, M., Domanska-Janik, K., Lazzarini, R.A., Matthieu, J.M. :
Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells. Neurochem Res 21:423-30, 1996. Pubmed reference: 8734435.
1995 Kowalczuk, K., Stryjecka-Zimmer, M., Sanecka-Obacz, M. :
Antioxidant enzyme activities in different brain areas of the neurological mutant--pt rabbit. Folia Neuropathol 33:169-74, 1995. Pubmed reference: 8705286.
Sypecka, J., Domańska-Janik, K. :
Expression of myelin-specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. I. Studies on the brain homogenates. Mol Chem Neuropathol 26:53-66, 1995. Pubmed reference: 8588824. DOI: 10.1007/BF02814941.
Sypecka, J., Domańska-Janik, K. :
Expression of myelin-specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. II. Studies on the purified myelin. Mol Chem Neuropathol 26:67-78, 1995. Pubmed reference: 8588825. DOI: 10.1007/BF02814942.
Sypecka, J., Gajkowska, B., Domañska-Janik, K. :
Oligodendrocyte development in PLP "pt" mutant rabbits: glycolipid antigens and PLP gene expression. Metab Brain Dis 10:321-33, 1995. Pubmed reference: 8847995.
1994 Tosic, M., Dolivo, M., Domanska-Janik, K., Matthieu, J.M. :
Myelin proteolipid protein mutation in the rabbit: a new model of Pelizaeus-Merzbacher disease. Schweiz Arch Neurol Psychiatr 145:24-6, 1994. Pubmed reference: 7533932.
Tosic, M., Dolivo, M., Domanskajanik, K., Matthieu, J.M. :
Paralytic tremor (pt): A new allele of the proteolipid protein gene in rabbits Journal of Neurochemistry 63:2210-2216, 1994. Pubmed reference: 7525875.
1993 Sypecka, J., Tosic, M., Dolivo, M., Domańska-Janik, K., Matthieu, J.M. :
Developmental expression of major myelin proteins in hypomyelinated pt mutant rabbit. Acta Neurobiol Exp (Wars) 53:281-4, 1993. Pubmed reference: 8317260.
Tosic, M., Dolivo, M., Amiguet, P., Domanskajanik, K., Matthieu, J.M. :
Paralytic Tremor (pt) Rabbit - A Sex-Linked Mutation Affecting Proteolipid Protein-Gene Expression Brain Research 625:307-312, 1993. Pubmed reference: 8275312.
1992 Domańska-Janik, K., de Nechaud, B., Inomata, M., Kawashima, S., Zalewska, T. :
Calcium-activated neutral protease (CANP) in normal and dysmyelinating mutant paralytic tremor rabbit myelin. Mol Chem Neuropathol 16:273-88, 1992. Pubmed reference: 1418220.
1988 Domańska-Janik, K., Gajkowska, B., de Néchaud, B., Bourre, J.M. :
Myelin composition and activities of CNPase and Na+,K+-ATPase in hypomyelinated "pt" mutant rabbit. J Neurochem 50:122-30, 1988. Pubmed reference: 2826682.
Wikel, H., Domańska-Janik, K., Strosznajder, J. :
Lipid composition of myelin and protein--lipid complex in a neurological rabbit mutant. Neurochem Pathol 8:109-19, 1988. Pubmed reference: 3237338.
1987 Domańska-Janik, K., Gajkowska, B., Strosznajder, J., Zalewska, T. :
Metabolic studies on dysmyelinating mutant "pt" rabbit brain in vitro. Neurochem Pathol 7:233-49, 1987. Pubmed reference: 2840612.
1986 Domańska-Janik, K., Wikiel, H., Zelman, I., Strosznajder, J. :
Brain lipids of a myelin-deficient rabbit mutant during development. Neurochem Pathol 4:135-51, 1986. Pubmed reference: 3561890.
1976 Czartoryska, B., Wald, I., Taraszewska, A. :
[Experimental studies on CNS hereditary disease in a rabbit model. VIII. Lipids of the pt rabbit brain]. Neuropatol Pol 14:265-72, 1976. Pubmed reference: 1272540.
Taraszewska, A., Osetowska, E., Krücke, W. :
Elektronenmikroskopische Untersuchung der intrazerebralen Verkalkungen bei dem erblichen paralytischen Tremor der pt-Kaninchen [Electron microscopic studies of intracerebral calcifications in hereditary paralytic tremor in pt rabbits]. Neuropatol Pol 14:331-6, 1976. Pubmed reference: 967309.
1975 Osetowska, E., Luszawski, F. :
[I. Prolegomena to experimental studies on hereditary disease of the nervous system on a "pt" rabbit model]. Neuropatol Pol 13:61-70, 1975. Pubmed reference: 1118061.
Osetowska, E., Luszawski, F., Taraszewska, A. :
[Experimental studies on a hereditary central nervous system disease in PT rabbits. V. Clinical syndrome in generations 1-10]. Neurol Neurochir Pol 9:569-78, 1975. Pubmed reference: 1186947.
1967 Osetowska, E. :
Nouvelle maladie hereditaire du lapin de laboratoire [New hereditary disease of the laboratory rabbit]. Acta Neuropathol 8:331-44, 1967. Pubmed reference: 6068347.
1937 Nachtsheim, H. :
Erbpathologische Untersuchungen am Kaninchen [Investigation of inherited defects in rabbits] Z. indo Abst. u. Vererbgs 73:463-466, 1937. DOI: 10.1007/BF01847500.

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