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Atxn3em1Jhus
Endonuclease-mediated Allele Detail
Summary
Symbol: Atxn3em1Jhus
Name: ataxin 3; endonuclease-mediated mutation 1, Jeannette Huebener-Schmid
MGI ID: MGI:7570176
Synonyms: 304Q
Gene: Atxn3  Location: Chr12:101885160-101924505 bp, - strand  Genetic Position: Chr12, 51.32 cM
Alliance: Atxn3em1Jhus page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutations:    Insertion, Nucleotide repeat expansion
 
Mutation detailsZinc-finger technology introduced a hyper-expanded polyQ stretch consisting of 304 CAACAGCAG interrupted repeats within the polyCAG region. (J:338892)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Atxn3 Mutation:  48 strains or lines available
References
Original:  J:338892 Haas E, et al., A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes. Mol Neurobiol. 2022 Jan;59(1):495-522
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/30/2025
MGI 6.24
The Jackson Laboratory