Tg(SMN2-SMN1*D44V)10Ahmb
Transgene Detail

Summary

• Symbol: Tg(SMN2-SMN1*D44V)10Ahmb
• Name: transgene insertion 10, Arthur H M Burghes
• MGI ID: MGI:6199460
• Synonyms: SMND44V
• Transgene: Tg(SMN2-SMN1*D44V)10Ahmb Location: unknown
• Alliance: Tg(SMN2-SMN1*D44V)10Ahmb 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*D44V)10Ahmb expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN1 (6606)

  Smn1	(MGI:109257)

• Mutation details: The construct is designed with a human SMN1 cDNA carrying the p.Asp44Val missense mutation in exon 2a under the control of the 4.1 kb human SMN2 promoter. Founder line 10 carries one copy 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: 1 strain 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)