title: Early phenotypical diagnoses in Trembler-J mice model.
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 behavioral 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.
authors.affiliation: Departamento de Proteínas y Acidos Nucleicos, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, Uruguay.
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Rosso
authors.forename: Karina
authors.initials: K
authors.lastname: Cal
authors.forename: Lucía
authors.initials: L
authors.lastname: Canclini
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Damián
authors.forename: Paul
authors.initials: P
authors.lastname: Ruiz
authors.forename: Héctor
authors.initials: H
authors.lastname: Rodríguez
authors.forename: José Roberto
authors.initials: JR
authors.lastname: Sotelo
authors.forename: Cristina
authors.initials: C
authors.lastname: Vazquez
authors.forename: Alejandra
authors.initials: A
authors.lastname: Kun
mesh_terms: D000367:Age Factors; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D004185:Disability Evaluation; D004195:Disease Models, Animal; D020820:Dyskinesias / Q000175:diagnosis / Q000235:genetics; D042241:Early Diagnosis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006579:Heterozygote; D019417:Hindlimb Suspension / Q000379:methods*; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D009185:Myelin Proteins / Q000235:genetics; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013623:Tail
chemical_list: D009185:Myelin Proteins; C489545:Pmp22 protein, mouse