Tg(SMN1*E134K)1Tlbt
Transgene Detail

Summary

• Symbol: Tg(SMN1*E134K)1Tlbt
• Name: transgene insertion 1, Kevin Talbot
• MGI ID: MGI:5493441
• Synonyms: Human full length SMN with E134K point mutation, SMN E134K transgene
• Transgene: Tg(SMN1*E134K)1Tlbt Location: unknown
• Alliance: Tg(SMN1*E134K)1Tlbt page

Transgene origin

• Strain of Origin: (C57BL/6 x CBA)F1

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(SMN1*E134K)1Tlbt expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN1 (6606)

  Smn1	(MGI:109257)

  Transgene codes for a protein with a glutamic acid to lysine mutation.

• Mutation details: This transgene contains the full length open reading frame of the human survival motor neuron 1 (SMN1) gene with a G to A transversion at nucleotide 400, resulting in replacement of glutamate by lysine at amino acid position 134 (E134K), under control of the ~750-bp SMN1 minimal promoter. The E134K mutation is associated in humans with some cases of Spinal Muscular Atrophy. (J:197598)

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:197598 Parkinson N, Personal Communication: SMN E134K transgene. Personal Communication to K. Pickford at Harwell. 2012
• All: 1 reference(s)