A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

Affiliations

¹ Department of Neurology.
² Medical Scientist Training Program and Neuroscience Graduate Program.
³ Medical Scientist Training and Cellular and Molecular Biology Graduate Programs, University of Iowa College of Medicine, IA, USA.
⁴ Molecular and Integrative Physiology.
⁵ Department of Internal Medicine.
⁶ Department of Neurology, University of Florida, Gainesville, FL, USA.
⁷ Department of Computational Medicine & Bioinformatics, University of Michigan, MI, USA.

PMID: 28605434
PMCID: PMC6251513
DOI: 10.1093/hmg/ddx176

Published Erratum

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

Biswarathan Ramani et al. Hum Mol Genet. 2017.

. 2017 Aug 15;26(16):3232-3233.

doi: 10.1093/hmg/ddx176.

Authors

Affiliations

¹ Department of Neurology.
² Medical Scientist Training Program and Neuroscience Graduate Program.
³ Medical Scientist Training and Cellular and Molecular Biology Graduate Programs, University of Iowa College of Medicine, IA, USA.
⁴ Molecular and Integrative Physiology.
⁵ Department of Internal Medicine.
⁶ Department of Neurology, University of Florida, Gainesville, FL, USA.
⁷ Department of Computational Medicine & Bioinformatics, University of Michigan, MI, USA.

PMID: 28605434
PMCID: PMC6251513
DOI: 10.1093/hmg/ddx176

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Figures

**Figure 1A**
Generation of the SCA3 knockin mouse resulted in tandem duplicate insertion of the targeting vector. We designed a targeting vector containing murine Atxn3 intron 9, CAG repeat-expanded exon 10, and intron 10 for homologous recombination to replace the same region of wild-type murine Atxn3. During homologous recombination, the targeting vector inserted twice in tandem, resulting in a founder mouse harboring two copies of mutant exon 10 separated by intron 10, a PGK-driven thymidine kinase (PGK-TK), and intron 9. The neomycin (Neo) cassette was removed by FLP/FRT recombination. This resulting atypical SCA3 knockin mouse is characterized in this publication.

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Erratum for

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.
Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL. Ramani B, et al. Hum Mol Genet. 2015 Mar 1;24(5):1211-24. doi: 10.1093/hmg/ddu532. Epub 2014 Oct 15. Hum Mol Genet. 2015. PMID: 25320121 Free PMC article.

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A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

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A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

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