Tg(Prnp-SETX*R2136H)1920Als
Transgene Detail

Summary

• Symbol: Tg(Prnp-SETX*R2136H)1920Als
• Name: transgene insertion 1920, Albert La Spada
• MGI ID: MGI:6881754
• Synonyms: R2136H Tg (line 1920)
• Transgene: Tg(Prnp-SETX*R2136H)1920Als Location: unknown
• Alliance: Tg(Prnp-SETX*R2136H)1920Als page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Prnp-SETX*R2136H)1920Als expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SETX (23064)

  Setx	(MGI:2443480)

  R2136H mutation seen in ALS4 patients

• Mutation details: The human SETX cDNA containing an arginine to histidine substitution at amino acid 2136 (R2136H; c.6407G>A) is under the control of the mouse prion promoter. The R2136H mutation is one of two identified to date in individuals with amyotrophic lateral sclerosis type 4 (ALS4). Two lines were established: 1917 and 1920. Line 1920 shows expression of the transgene at approximately 2.5X that of the endogenous mouse gene. (J:320844)

Disease models

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:320844 Bennett CL, et al., Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018 Sep;136(3):425-443
• All: 1 reference(s)