Atxn3^{tm2.1(ATXN3*)Mfig}
Targeted Allele Detail

Summary

• Symbol: Atxn3^{tm2.1(ATXN3*)Mfig}
• Name: ataxin 3; targeted mutation 2.1, Maciej Figiel
• MGI ID: MGI:5708157
• Synonyms: Ki91
• Gene: Atxn3 Location: Chr12:101885160-101924505 bp, - strand Genetic Position: Chr12, 51.32 cM
• Alliance: Atxn3^{tm2.1(ATXN3*)Mfig} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:218541
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Atxn3^{tm2.1(ATXN3*)Mfig} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN3 (4287)

  Atxn3

  (MGI:1099442)

• Mutation details: A genomic region including exons 7-11 was replaced with a human cDNA containing exons 7 - 11. The cDNA was derived from the GM06153 line of human fibroblasts containing 69 CAG repeats which expanded to 91 repeats during the targeting process. An FRT flanked neo cassette was inserted upstream of the cDNA. Flp mediated recombination removed the neo cassette. Mild intergenerational instability of CAG repeats is present in both maternal and paternal transmission. Upon maternal transmission, the CAG tract shows a tendency toward contraction, while upon paternal transmission, the CAG tract shows a tendency toward expansion. (J:218541)

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
• Carrying any Atxn3 Mutation: 48 strains or lines available

References

• Original: J:218541 Switonski PM, et al., A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD. Neurobiol Dis. 2015 Jan;73:174-88
• All: 2 reference(s)