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Atxn1tm1Hzo
Targeted Allele Detail
Nomenclature
Symbol: Atxn1tm1Hzo
Name: ataxin 1; targeted mutation 1, Huda Y Zoghbi
MGI ID: MGI:2429435
Synonyms: Atx1-KI, atxn1154Q, Sca1154Q, Sca1154Q/2Q, Sca1-KI
Gene: Atxn1  Location: Chr13:45549758-45964991 bp, - strand  Genetic Position: Chr13, 21.98 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77225
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsAn 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  5 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:  19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory