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Tg(Prnp-UBQLN2*P506T)#Hlp
Transgene Detail
Summary
Symbol: Tg(Prnp-UBQLN2*P506T)#Hlp
Name: transgene insertion, Henry L Paulson
MGI ID: MGI:6784048
Transgene: Tg(Prnp-UBQLN2*P506T)#Hlp  Location: unknown  
Alliance: Tg(Prnp-UBQLN2*P506T)#Hlp page
Transgene
origin
Strain of Origin:  (C57BL/6 x SJL)F2
Transgene
description
Transgene Type:    Transgenic (Epitope tag, Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsThe transgene contains the following elements: the mouse prion protein gene promoter and exon 1, intron 1 and exon 2, sequence coding for a FLAG tag in-frame with the human Ubqln2 cDNA that has been modified to change proline codon 506 into a threonine codon (p.P506T), and Prnp exon 3 and downstream sequence. The mutation is associated with familial frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). (J:267076)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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
References
Original:  J:267076 Sharkey LM, et al., Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly. Proc Natl Acad Sci U S A. 2018 Oct 30;115(44):E10495-E10504
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
12/10/2024
MGI 6.24
The Jackson Laboratory