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| Nomenclature |
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Symbol:
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Atxn1tm1Hzo
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Name:
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ataxin 1;
targeted mutation 1, Huda Y Zoghbi
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MGI ID: |
MGI:2429435 |
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Synonyms: |
Atx1-KI, Sca1154Q, Sca1154Q/2Q |
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Gene:
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Atxn1
Location:
Chr13:45549758-45964991 bp, - strand
Genetic Position: Chr13,
21.98 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:77225
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: An expanded tract of 154 CAG repeats was engineered and knocked into exon 8. Additionally, a floxed neo-TK cassette was inserted into the upstream intron 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
13 reference(s)
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Analysis Tools
