Nouvelle maladie h�r�ditaire du lapin de laboratoire

Osetowska, E

doi:10.1007/bf00696670

Cited by 15 publications

(4 citation statements)

References 8 publications

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“…The mutation paralytic tremor (pt), named after its main symptoms: body tremor and partial or total limb paresis, appeared spontaneously within the Chinchilla rabbit lane (Department of Comparative Neurology, Medical Research Centre, Polish Academy of Sciences) in 1964 (Osetowska 1967). The inheritance of the pt trait was determined as recessive and X-linked.…”

Section: Animalsmentioning

confidence: 99%

Banking of embryos of mutated, paralytic tremor rabbit by means of vitrification

et al. 2005

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Cryopreservation enables banking of embryos for future use in medicine and in animal breeding. It also enables protection of germ plasm of endangered species and unique strains or lanes of laboratory animals. This paper describes an example of employing a vitrification method for banking of embryos of a unique lane of rabbit. The paralytic tremor (pt) rabbit is an X-linked recessive mutant lane of the Chinchilla breed characterized by hypomyelination of the central nervous system. In order to obtain a sufficient number of embryos, pt females were subjected to superovulation and surgical embryo collection. All suitable embryos were vitrified in 0.25 mL insemination straws in a modified EFS vitrification solution comprised of ethylene glycol (40%), Ficoll 70 (18%) and sucrose (0.3 M) in Hepes buffered TCM medium containing 20% fetal calf serum. In order to assess the efficiency of the vitrification procedure, a representative portion of vitrified embryos was warmed after a period of storage. Warmed embryos were subjected to in vitro culture for 72 h or were transferred to the uterus of synchronized recipients. The majority of the 141 warmed embryos survived vitrification and 100/141 (71%) developed to the blastocyst stage. Moreover, out of an additional 34 warmed embryos transferred to four recipients, eight (23.5%) developed to term and seven live pups were born. Six of the rabbit pups exhibited paralytic tremor symptoms typical for the pt lane. Although the overall efficiency of the vitrification method was lower compared with the effects usually achieved for 'healthy' embryos, results presented confirm the real possibility of the future restoration of the colony of pt rabbit, if sufficient number of embryos are cryopreserved.

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Section: Animalsmentioning

confidence: 99%

Banking of embryos of mutated, paralytic tremor rabbit by means of vitrification

et al. 2005

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“…The pt rabbit can be considered as an animal model for the classical form of PMD. These animals show mild hypomyelination and a normal number of oligodendrocytes (Osetowska, 1967;Taraszewska and Zelman, 1987;Tosic et al, 1993). They reach adulthood and can reproduce.…”

Section: Introductionmentioning

confidence: 95%

Intracellular transport of the DM‐20 bearing shaking pup ( shp ) mutation and its possible phenotypic consequences

Toŝić

Matthey

Gow

et al. 1997

J of Neuroscience Research

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Paralytic tremor (pt) in rabbits and shaking pup (shp) in dogs are allelic dysmyelinated mutants of the proteolipid protein (Plp) gene. Both mutations affect the same amino acid, histidine36, which is replaced by glutamine in pt and by proline in shp. Phenotypic expression of these two mutations is very different. Paralytic tremor presents a much milder form of dysmyelination than shaking pup. The number of oligodendrocytes in the mutant rabbit is normal, while in the dog, the oligodendrocyte number is reduced due to early death or incomplete maturation. We have previously reported an abnormal intracellular transport of the PLPpt, whereas DM-20pt was normally transported to the cell membrane. In the present study, we show that the transport of the two isoforms containing the shp mutation is impaired in transfected Cos-7 cells. Cotransfecting cells with different ratios and combinations of mutated PLP and DM-20 cDNAs, we demonstrated that DM-20pt, but not DM-20shp, facilitates intracellular trafficking and integration into the plasma membrane of either of the two mutated PLPs. The phenotypic difference between these two allelic mutations can result from differences in DM-20 protein trafficking and sorting. These results show that the loss of function of PLP is not position-dependent but depends on the nature of the mutation.

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“…The mutation in the p t rabbit is inherited as a recessive X-linked trait (Osetowska, 1967). Affected male hemizygotes and female homozygotes develop a n axial tremor at 12-14 days of age, followed by spastic paresis.…”

Section: Introductionmentioning

confidence: 99%

Myelin mutants: New models and new observations

Lunn

Fanarraga

Duncan

1995

Microscopy Res & Technique

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The myelin mutants have been extensively used as tools to study the complex process of myelination in the central and peripheral nervous system. A multidisciplinary approach to the study of these models ultimately allows a correlation to be made between phenotype and genotype. This correlation may then lead to the formation of new hypotheses about the functions of the products of genes involved in myelination. This review presents a number of new myelin mutants which have recently been described. The species involved include mouse, rat, rabbit, hamster, and dog models. The genetic defect has not been elucidated in all of these animals, but most have been characterized clinically and pathologically, and, in some cases, biochemically. In addition, a better known myelin mutant, the trembler mouse, is discussed. Recent molecular findings have brought this fascinating mutant to the forefront of the field of peripheral nervous system research. The range of abnormalities in the mutants described in this review includes defects in specific myelin proteins, suspected abnormalities in membrane formation, and apparent defects of the oligodendrocyte cytoskeleton. These findings underscore the complexity of the myelination process and highlight the numerous ways in which it can be disrupted.

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Nouvelle maladie h�r�ditaire du lapin de laboratoire

Cited by 15 publications

References 8 publications

Banking of embryos of mutated, paralytic tremor rabbit by means of vitrification

Banking of embryos of mutated, paralytic tremor rabbit by means of vitrification

Intracellular transport of the DM‐20 bearing shaking pup ( shp ) mutation and its possible phenotypic consequences

Myelin mutants: New models and new observations

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