Tg(SMN1-SMN2*)16Cll
Transgene Detail

Summary

• Symbol: Tg(SMN1-SMN2*)16Cll
• Name: transgene insertion 16, Christian L Lorson
• MGI ID: MGI:5490785
• Synonyms: SMN^RT
• Transgene: Tg(SMN1-SMN2*)16Cll Location: unknown
• Alliance: Tg(SMN1-SMN2*)16Cll page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(SMN1-SMN2*)16Cll expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN2 (6607)

  Smn1	(MGI:109257)

• Mutation details: This transgene consists of 3.4 kb promoter and 5'-untranslated region from the human SMN1 gene, the complete coding sequence of human SMN2 cDNA containing the silent C to T transition in exon 7 that results in the alternatively spliced transcript without exon 7 (SMNdelta7) and a TAG to TAT alteration in the first stop codon in exon 8 (change from a stop codon to a tyrosine), and the 3'-UTR of SMN1. The TAG to TAT change in exon 8 allows for translational stop codon read-through of the SMNdelta7 and generates an extended SMN2 protein. Thirteen lines were produced. (J:194969)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:194969 Cobb MS, et al., Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet. 2013 May 1;22(9):1843-55
• All: 2 reference(s)