Tg(ATXN3*)84.2Cce
Transgene Detail

Summary

• Symbol: Tg(ATXN3*)84.2Cce
• Name: transgene insertion 84.2, Cemal K Cemal
• MGI ID: MGI:3838155
• Synonyms: MJD84.2, Q84, SCA3-YAC-84Q, YAC84Q
• Transgene: Tg(ATXN3*)84.2Cce Location: unknown
• Alliance: Tg(ATXN3*)84.2Cce page

Transgene origin

• Strain of Origin: (C57BL/6J x CBA/Ca)F2

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(ATXN3*)84.2Cce expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN3 (4287)

  Atxn3

  (MGI:1099442)

• Mutation details: A 250 kb YAC containing the intact human locus with 15 CAG trinucleotide repeats in exon 10 was modified by homologous recombination to expand the number of CAG repeats to 84. Two copies of the transgene inserted into this line with the number of CAG repeats for both copies confirmed by sequencing (a second founder line, 84.1, had insertion of 2 transgenes with variant triplets and altered repeat numbers). Transgene expression was detected in the cerebellum at endogenous levels and was also detected in the cerebral cortex, heart, and skeletal muscle. (J:76495)

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: 3 strains available Cell Lines: 0 lines available

References

• Original: J:76495 Cemal CK, et al., YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet. 2002 May 1;11(9):1075-94
• All: 22 reference(s)