Tg(Thy1-UBQLN2*P497S)3Mont
Transgene Detail

Summary

• Symbol: Tg(Thy1-UBQLN2*P497S)3Mont
• Name: transgene insertion 3, Mervyn Monteiro
• MGI ID: MGI:5829037
• Synonyms: P497S
• Transgene: Tg(Thy1-UBQLN2*P497S)3Mont Location: unknown
• Alliance: Tg(Thy1-UBQLN2*P497S)3Mont page

Transgene origin

• Strain of Origin: C3H or C57BL/6 or C57BL/6J

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Thy1-UBQLN2*P497S)3Mont expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  UBQLN2 (29978)

  Ubqln2

  (MGI:1860283)

  contains a P497S substitution

• Mutation details: The transgene was designed to have the modified ~6.5 kbp mouse Thy1.2 promoter (Thy1 sequences extending from the promoter to the intron following exon 4, excluding exon 3 and its flanking introns) followed by a cDNA sequence encoding the human ubiquilin 2 protein harboring a proline-to-serine missense mutation at amino acid 497. UBQLN2 missense mutations (including this one) are linked to dominant inheritance of amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Founder line 3 was found to have 5 copies of the transgene. (J:239510)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

Notes

The transgenic construct was injected into fertilized B6C3/C57BL/6J hybrid eggs. (J239510)

References

• Original: J:239510 Le NT, et al., Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS-FTD-linked UBQLN2 mutations. Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):E7580-E7589
• All: 2 reference(s)