Mammalian Models of Spinal Muscular Atrophy

AHMB Burghes, CJ DiDonato, V McGovern, WD Arnold

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations


Spinal muscular atrophy (SMA) is caused by reduced levels of the survival motor neuron (SMN) protein. In humans this is caused by loss of SMN1 and retention of SMN2. A challenge in modeling SMA in animals is obtaining SMN levels equivalent to what is observed in SMA. A number of mouse models of SMA as well as a larger porcine model have been created. These models are used to test SMA therapeutics and to study the targets of SMN reduction that are most relevant for the pathogenesis of SMA. In addition, the models are used to investigate the potential modification of the SMA phenotype independent of SMN levels. In this chapter we summarize the current mammalian models of SMA.

Original languageEnglish (US)
Title of host publicationSpinal Muscular Atrophy
Subtitle of host publicationDisease Mechanisms and Therapy
PublisherElsevier Inc
Number of pages20
ISBN (Electronic)9780128036860
ISBN (Print)9780128036853
StatePublished - Jan 1 2017


  • Complementation
  • SMA
  • SMA mouse model
  • SMN
  • Transgenic mice

ASJC Scopus subject areas

  • General Medicine
  • General Neuroscience


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