Atxn2^tm2.1Aub
Targeted Allele Detail

Summary

• Symbol: Atxn2^tm2.1Aub
• Name: ataxin 2; targeted mutation 2.1, Georg Auburger
• MGI ID: MGI:5467982
• Synonyms: Atxn2-CAG42, Atxn2^tm2.1Geno
• Gene: Atxn2 Location: Chr5:121849794-121954372 bp, + strand Genetic Position: Chr5, 61.93 cM, cytoband F
• Alliance: Atxn2^tm2.1Aub page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:188118
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

Allele Type: Targeted (Humanized sequence) Mutation: Insertion Mutation details: Exon 1 was replaced with one in which the CAG trinucleaotide repeat is expanded to 42 copies. Flp-mediated recombination removed the FRT-flanked neo cassette inserted downstream of the modified exon 1. (J:188118)

Generation of the Atxn2^tm2.1Aub allele

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Atxn2 Mutation: 90 strains or lines available

References

• Original: J:188118 Damrath E, et al., ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice. PLoS Genet. 2012 Aug;8(8):e1002920
• All: 4 reference(s)