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Tg(Prnp-ATXN7*92Q*D266N)1239Als
Transgene Detail
Summary
Symbol: Tg(Prnp-ATXN7*92Q*D266N)1239Als
Name: transgene insertion 1239, Albert R La Spada
MGI ID: MGI:5705125
Synonyms: D266N
Transgene: Tg(Prnp-ATXN7*92Q*D266N)1239Als  Location: unknown  
Alliance: Tg(Prnp-ATXN7*92Q*D266N)1239Als page
Transgene
origin
Strain of Origin:  (C57BL/6J x C3H/HeJ)F1
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Prnp-ATXN7*92Q*D266N)1239Als expresses 1 gene
 
Mutation detailsThe coding region of the human gene containing 92 CAG repeats is under the control of the murine prion protein promoter. In addition, the aspartic acid residue at amino acid position 266 was mutated to an asparagine (D266N). This mutation prevents the cleavage of the ataxin 7 protein by caspase 7. N-terminal FLAG and C-terminal c-myc epitope tags were also added. Western blot analysis confirmed the expression of the full-length protein in the cerebellum and retina. (J:222402)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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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
References
Original:  J:222402 Guyenet SJ, et al., Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet. 2015 Jul 15;24(14):3908-17
All:  1 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
10/22/2024
MGI 6.24
The Jackson Laboratory