Abstract

Spinal muscular atrophy (SMA) is caused by loss of SMN1 and retention of SMN2 leading to SMN deficiency. SMN functions in assembly of spliceosomal snRNPs and U7 snRNP, however many other functions have been proposed such as transport of RNA down axons. It is not understood which of these functions is critical to the development of SMA or whether they act in concert. We have developed a cell line which can be conditionally deleted for SMN via Cre expression. In these lines, removal of SMN always results in lethality, thus they can be used to determine which SMN alleles are functional as well as identify suppressors.

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