Tg(ATXN2*72Q)#Plt
Transgene Detail

Summary

• Symbol: Tg(ATXN2*72Q)#Plt
• Name: transgene insertion, Stefan M Pulst
• MGI ID: MGI:5697198
• Synonyms: ATXN2-Q72, BAC-Q72
• Transgene: Tg(ATXN2*72Q)#Plt Location: unknown
• Alliance: Tg(ATXN2*72Q)#Plt page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Nucleotide repeat expansion
• Tg(ATXN2*72Q)#Plt expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN2 (6311)

  Atxn2

  (MGI:1277223)

  Expresses mutant isoform with CAG72 repeats in exon 1

• Mutation details: A 169 kb human BAC (RP11-798L5) containing the entire 150 kb human ATXN2 locus including regulatory regions was engineered to replace the endogenous ATXN2 exon-1 CAG22 with CAG72 repeats. Quantitative PCR analysis indicates tandem integration of 4 copies of the transgene. RT-PCR confirmed expression of transcripts throughout the central nervous system, including cerebral hemispheres, cerebellum and spinal cord, and in non-central nervous system tissues like the heart and liver. Western blot confirmed expression of protein. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:224692)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:224692 Dansithong W, et al., Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model. PLoS Genet. 2015 Apr;11(4):e1005182
• All: 3 reference(s)