Tg(SMN2*A111G)588Ahmb
Transgene Detail

Summary

• Symbol: Tg(SMN2*A111G)588Ahmb
• Name: transgene insertion 588, Arthur H M Burghes
• MGI ID: MGI:3847324
• Synonyms: A588, A591, line 588, line 591, SMN(A111G)
• Transgene: Tg(SMN2*A111G)588Ahmb Location: unknown Genetic Position: Chr8, Syntenic
• Alliance: Tg(SMN2*A111G)588Ahmb page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(SMN2*A111G)588Ahmb involves 1 genes/genome features (Cotl1) View all
• Tg(SMN2*A111G)588Ahmb expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN2 (6607)

  Smn1	(MGI:109257)

• Mutation details: A transgenic construct containing the SMN(A111G) missense mutation under the control of 4.1 kb SMN promoter was injected into fertilized FVB/N mouse eggs. Eleven founder lines were obtained and line 588 was subsequently established. This line was found to have 4 copies of the transgene. The transgene integrated on chromosome 8 (119838039-119852117; mouse mm10]), which resulted in a duplication of the 14 kb genomic region in between the two identified fusion points. This duplicated region includes exons 1 and 2 of the Cotl1 locus. It is not known if the duplicated region expresses any Cotl1 isoforms or truncated protein. (J:101977, J:148541)

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:148541 Workman E, et al., A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet. 2009 Jun 15;18(12):2215-29
• All: 3 reference(s)