CMT 1A: Early phenotypical diagnoses in Trembler-J mice model

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J Neurosci Methods. 2010 Apr 20

Early phenotypical diagnoses in Trembler-J mice model.

Rosso G, Cal K, Canclini L, Damián JP, Ruiz P, Rodríguez H, Sotelo JR, Vazquez

C, Kun A.

Departamento de Proteínas y Acidos Nucleicos, Instituto de Investigaciones

Biológicas Clemente Estable, Montevideo, Uruguay.

Abstract

Pmp-22 mutant mice (Trembler-J: B6.D2-Pmp22<Tr-J>/J), are used as a model to

study Charcot-Marie-Tooth type 1A (CMT1A). The identification of individual

genotypes is a routine in the management of the Tr(J) colony. The earliest

phenotypic manifestation of the pmp-22 mutation is just about 20th postnatal

days, when pups begin to tremble.

In this study, a rapid and simple diagnostic method was developed by modifying

the Tail Suspension Test (MTST) to determine the difference between the Tr(J)

and the wild type mice phenotype. The animal behavioural phenotypes generated

during the test were consistent with the specific genotype of each animal.

The MTST allowed us to infer the heterozygous genotype in early postnatal

stages, at 11 days after birth. The motor impairment of Tr(J) mice was also

analyzed by a Fixed Bar Test (FBT), which revealed the disease evolution

according to age.

The main advantages of MTST are its objectivity, simplicity, and from the

viewpoint of animal welfare, it is a non-invasive technique that combined with

his rapidity show its very well applicability for use from an early age in these

mice.