Article
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy.
Biochemical and biophysical research communications - 1 Jan 2010
Gogliotti Rocky G, Hammond Suzan M, Lutz Cathleen, Didonato Christine J
Abstract excerpt
Proximal spinal muscular atrophy (SMA) results from loss of the survival motor neuron 1 (SMN1) gene, with retention of its nearly identical homolog, SMN2. There is a direct correlation between disease severity and SMN2 copy number. Mice do not have a Smn2 gene, and thus cannot naturally replicate the disorder. However, two murine models of SMA have been generated using SMN2-BAC transgenic mice bred onto a mutant...
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