OMIA:000770-9986 : Tremor, X-linked in Oryctolagus cuniculus (rabbit) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 312080 (trait) , 300401 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1994
Species-specific symbol: pt
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.
Breed:
Chinchilla (Rabbit) (VBO_0001241).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PLP1 | proteolipid protein 1 | Oryctolagus cuniculus | X | NC_067395.1 (86321550..86306134) | PLP1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 248 | Chinchilla (Rabbit) | Tremor, X-linked | PLP1 | pt | missense | Naturally occurring variant | X | T>A | 1994 | 7525875 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000770-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. DOI: 10.1258/0023677054307015. | |
| 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. DOI: 10.1002/(SICI)1097-4547(19971201)50:5<844::AID-JNR20>3.0.CO;2-#. | |
| 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. DOI: 10.1007/BF02527706. | |
| 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., 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. | |
| 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., 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. | |
| 1994 | 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. | |
| 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 (1985) 145:24-6, 1994. Pubmed reference: 7533932. | |
| 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. DOI: 10.1007/BF03159974. | |
| 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. DOI: 10.1007/BF03160139. | |
| 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. DOI: 10.1007/BF03160183. | |
| 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. DOI: 10.1007/BF02834354. | |
| 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. DOI: 10.1007/BF00696670. | |
| 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. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 08 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 May 2012
- Changed by Frank Nicholas on 31 Dec 2013
- Changed by Frank Nicholas on 03 May 2016
- Changed by Imke Tammen2 on 06 Mar 2023