Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy.

ABSTRACT:

Background

Mouse models of mild spinal muscular atrophy (SMA) have been extremely challenging to generate. This paucity of model systems has limited our understanding of pathophysiological events in milder forms of the disease and of the effect of SMN depletion during aging.

Methods

A mild mouse model of SMA, termed Smn^2B/-;SMN2^+/-, was generated by crossing Smn^-/-;SMN2 and Smn^2B/2B mice. This new model was characterized using behavioral testing, histology, western blot, muscle-nerve electrophysiology as well as ultrasonography to study classical SMA features and extra-neuronal involvement.

Findings

Smn^2B/-;SMN2^+/- mice have normal survival, mild but sustained motor weakness, dener

SUBMITTER: Deguise MO 

PROVIDER: S-EPMC7184161 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature