Tg(SMN2-SMN1*I116F)11Ahmb
Transgene Detail

Summary

• Symbol: Tg(SMN2-SMN1*I116F)11Ahmb
• Name: transgene insertion 11, Arthur H M Burghes
• MGI ID: MGI:6199484
• Synonyms: SMNI116F
• Transgene: Tg(SMN2-SMN1*I116F)11Ahmb Location: unknown
• Alliance: Tg(SMN2-SMN1*I116F)11Ahmb 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*I116F)11Ahmb expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN1 (6606)

  Smn1	(MGI:109257)

• Mutation details: The transgenic construct is designed with a human SMN1 cDNA carrying the p.Ile116Phe missense mutation in exon 3 under the control of the 4.1 kb human SMN2 promoter. Founder line 11 carries four copies of the transgene. (J:265815)

Find Mice (IMSR)

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