A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
M Bowerman, LM Murray, A Beauvais, B Pinheiro… - Neuromuscular …, 2012 - Elsevier
Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically
heterogeneous, with disease ranging from severe to mild. Here, we identify a critical
threshold of Smn that dictates onset of SMA in the intermediate Smn2B/− mouse model. With
about 15% normal level of Smn protein, Smn2B/− mice display reduced body weight, motor
neuron loss and motor defects. Importantly, these mice are phenotype-free until P10 with a …
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically
heterogeneous, with disease ranging from severe to mild. Here, we identify a critical
threshold of Smn that dictates onset of SMA in the intermediate Smn2B/− mouse model. With
about 15% normal level of Smn protein, Smn2B/− mice display reduced body weight, motor
neuron loss and motor defects. Importantly, these mice are phenotype-free until P10 with a …