Tg(SMN1*E134K)1Tlbt

This transgene contains the full length open reading frame of the human survival motor neuron 1 (SMN1) gene with a G to A transversion at nucleotide 400, resulting in replacement of glutamate by lysine at amino acid position 134 (E134K), under control of the ~750-bp SMN1 minimal promoter. The E134K mutation is associated in humans with some cases of Spinal Muscular Atrophy. (J:197598)