Allele/Variant

Atxn1tm2Zuk

Species
Mus musculus
Symbol
Atxn1tm2Zuk
Category
allele
Allele of gene
Atxn1
Transgenic Constructs
None
Synonyms
  • Sca178Q
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Phenotype
Annotation details
Source
References
impaired coordinationMGI
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Disease Associations

No data available