Tg(SMN2-SMN1*Q282A)2Ahmb
Transgene Detail

Summary

• Symbol: Tg(SMN2-SMN1*Q282A)2Ahmb
• Name: transgene insertion 2, Arthur H M Burghes
• MGI ID: MGI:6189119
• Synonyms: SMNQ282A
• Transgene: Tg(SMN2-SMN1*Q282A)2Ahmb Location: unknown Genetic Position: Chr11, Syntenic
• Alliance: Tg(SMN2-SMN1*Q282A)2Ahmb page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Nucleotide substitutions
• Tg(SMN2-SMN1*Q282A)2Ahmb involves 11 genes/genome features (Asgr1, Asgr2, Mgl2 ...) View all
• Mutation details: 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)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available

References

• Original: J:265815 Iyer CC, et al., Mild SMN missense alleles are only functional in the presence of SMN2 in mammals. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416
• All: 3 reference(s)