Atxn3^{tm1.1(ATXN3)Mfig}
Targeted Allele Detail

Summary

• Symbol: Atxn3^{tm1.1(ATXN3)Mfig}
• Name: ataxin 3; targeted mutation 1.1, Maciej Figiel
• MGI ID: MGI:5288414
• Synonyms: K300
• Gene: Atxn3 Location: Chr12:101885160-101924505 bp, - strand Genetic Position: Chr12, 51.32 cM
• Alliance: Atxn3^{tm1.1(ATXN3)Mfig} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175960
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Atxn3^{tm1.1(ATXN3)Mfig} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN3 (4287)

  Atxn3

  (MGI:1099442)

• Mutation details: Exons 2 and 3 were replaced with the human cDNA corresponding to exons 2 through 11 with 69 CAG repeats found in a patient with SCA3 (Spinocerebellar ataxia 3). A floxed neo cassette was removed by cre-mediated recombination. (J:175960)

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: 47 strains or lines available

References

• Original: J:175960 Switonski PM, et al., Mouse ataxin-3 functional knock-out model. Neuromolecular Med. 2011 Mar;13(1):54-65
• All: 1 reference(s)