Tg(SMN2-SMN1*Q282A)2Ahmb

The transgenic construct contains a human SMN1 cDNA carrying the p.Gln282Ala missense mutation in exon 7 under the control of a 4.1 kb SMN promoter derived from the SMN2 gene. Founder line 2 carries eight copies of the transgene. The transgene integrated on chromosome 11 (70055009-70372513; mouse mm10]) resulting in a duplication of the 317 kb genomic region between the two identified fusion points. This duplicated region includes several loci (Asgr1, Asgr2, Mgl2, Clec10a, Slc16a11, Slc16a13, Bcl6b, Mir497b, Rnasek, Alox12 and Alox15). (J:101977, J:265815)