Atxn1^tm1Hzo
Targeted Allele Detail

Summary

• Symbol: Atxn1^tm1Hzo
• Name: ataxin 1; targeted mutation 1, Huda Y Zoghbi
• MGI ID: MGI:2429435
• Synonyms: Atx1-KI, atxn1^154Q, Sca1^154Q, Sca1-KI
• Gene: Atxn1 Location: Chr13:45703231-46118467 bp, - strand Genetic Position: Chr13, 21.98 cM
• Alliance: Atxn1^tm1Hzo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77225
• Parent Cell Line: AB2.2 (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 154 CAG repeats was engineered and knocked into exon 7 by replacing the PPPQQ codons with 154 glutamine (Q) codons. Additionally, a loxP site flanked neomycin resistance gene cassette was inserted into intron 6 and subsequently deleted in ES cells via Cre-mediated recombination. While equivalent transcript levels were identified in both mutant and wild-type mice by RT-PCR, reduced levels of mutant protein were observed in brain tissue. The authors attributed this apparent reduction in protein level to an increased difficulty of extraction or solubilization due to the mutant protein accumulating into nuclear aggregates as mice age. (J:77225)

Disease models

Expression

In Mice Carrying this Mutation:	33 assay results 5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Atxn1 Mutation: 50 strains or lines available

References

• Original: J:77225 Watase K, et al., A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13;34(6):905-19
• All: 43 reference(s)