Atxn1^tm2Zuk
Targeted Allele Detail

Summary

• Symbol: Atxn1^tm2Zuk
• Name: ataxin 1; targeted mutation 2, Martin M Matzuk
• MGI ID: MGI:2386669
• Synonyms: Sca1^78Q
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^tm2Zuk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:61398
• Parent Cell Line: AB2.1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide repeat expansion
• Mutation details: An expanded tract of 78 CAG repeats was engineered and knocked into exon 7 by replacing the PPPQQ codons with 78 glutamine (Q) codons and a loxP site flkanked neomycin resistance gene cassette was inserted into intron 6. Transient expression of Cre recombinase in correctly targeted ES cells removed the neo cassette. Expression of the mutant allele was verified by Western blot analysis of brain protein extracts. The CAG expansion mimics mutations found in human spinocerebellar ataxia type 1 patients with CAG expansions ranging from 40-83 repeats. (J:61398)

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 Atxn1 Mutation: 50 strains or lines available

References

• Original: J:61398 Lorenzetti D, et al., Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000 Mar 22;9(5):779-85
• All: 3 reference(s)