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Transgene Detail
Symbol: Tg(Prnp-TARDBP*Q331K)103Dwc
Name: transgene insertion 103, Don W Cleveland
MGI ID: MGI:5463119
Synonyms: Prp-TDP-43Q331K
Transgene: Tg(Prnp-TARDBP*Q331K)103Dwc  Location: unknown  
Strain of Origin:  C57BL/6 x C3H
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(Prnp-TARDBP*Q331K)103Dwc expresses 1 gene
Mutation detailsA full-length human TAR DNA binding protein (TARDBP or TDP-43) cDNA sequence was modified to have both an N-terminal myc tag and the glutamine to lysine substitution at amino acid 331 associated with familial ALS (huTDP-43*Q331K). This huTDP-43*Q331K cDNA sequence was inserted between exon 2 and exon 3 of mouse prion protein (Prnp) gene. The resulting Prnp-TDP-43*Q331K transgene was flanked with loxP sites. Founder line 103 was identified with approxiamately 2.5-fold greater total TDP-43 (1.5-fold greater huTDP-43*Q331K) expression levels in spinal cord as compared to endogenous TDP-43 in non-transgenic mice. (J:191785)
View phenotypes and curated references for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Original:  J:191785 Arnold ES, et al., ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):E736-45
All:  8 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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MGI 6.17
The Jackson Laboratory