A review of: Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M 2000 Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet 9:341–346. Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H 2000 A mouse model for spinal muscular atrophy. Nat Genet 24:66–70. Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossol W, Prior TW, Morris GE, Burghes AH 2000 The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9:333–339.

Despite some initial confusion, it is clear that deletions of the SMN1 (survival motor neuron) gene are necessary and sufficient for almost all cases of the autosomal recessive neurodegenerative disorder, spinal muscular atrophy (SMA). Now, in a welcome advance, three recent papers describe mice genetically engineered to have low levels of SMN protein, all with the SMA hallmark motor neuron loss and, in two cases, phenotypic features of SMA.

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