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Targeted Allele Detail
Symbol: Atxn3tm1Hlp
Name: ataxin 3; targeted mutation 1, Henry L Paulson
MGI ID: MGI:5493478
Synonyms: Atxn3Q82, dupKi, SCA3
Gene: Atxn3  Location: Chr12:101885160-101924505 bp, - strand  Genetic Position: Chr12, 51.32 cM
Germline Transmission:  Earliest citation of germline transmission: J:197601
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Duplication, Insertion
Mutation detailsAn expanded CAG trinucleotide repeat, (CAG)2(CAAAAG)(CAG)82 which encodes 85 glutamines interrupted by a lysine at the fourth residue [Q(3)KQ(82)], was inserted into exon 10. An FRT flanked PGK-neo cassette was removed via flp-mediated recombination. PCR confirmed insertion of the expansion and Western blot analysis confirmed protein expression in the brain, heart, liver, muscle and spleen. CAG repeat length sizing in offspring of heterozygotes shows a modest tendency toward CAG repeat contraction upon maternal transmission of the mutant allele and stabilization or mild expansion upon paternal transmission. The allele also contains a tandem duplicate of the targeting vector which contains a 3' part of intron 9, the CAG repeat expansion-containing exon 10 and a 5' part of intron 10. (J:197601, J:219232)
View phenotypes and curated references for all genotypes (concatenated display).
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 Atxn3 Mutation:  39 strains or lines available
ES cell line = Bruce4.G9, a subline of Bruce 4 (B6.Cg-Thy1)
Original:  J:197601 Paulson HL, Knock-in of an expanded CAG repeat into the Atxn3 gene. MGI Direct Data Submission. 2013 Jul;
All:  3 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
MGI 6.17
The Jackson Laboratory