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Tg(Prnp*A116V*M128V)1309Jama
Transgene Detail
Summary
Symbol: Tg(Prnp*A116V*M128V)1309Jama
Name: transgene insertion 1309, James A Mastrianni
MGI ID: MGI:4356192
Synonyms: Tg(A116V)
Transgene: Tg(Prnp*A116V*M128V)1309Jama  Location: unknown  
Alliance: Tg(Prnp*A116V*M128V)1309Jama page
Transgene
origin
Germline Transmission:  Earliest citation of germline transmission: J:151934
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Prnp*A116V*M128V)1309Jama expresses 1 gene
 
Mutation detailsNucleotide substitutions in the mouse gene result in the amino acid substitutions of valine for alanine at position 116 (A117V) and valine for methionine at position 128 (M128V). These mutations mimic corresponding mutations (A116V and 129V) in the human gene in patients with Gerstmann-Straussler-Scheinker syndrome. This transgene was injected into Prnptm1Cwe containing oocytes and one line was examined (line 1309). (J:151934)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 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:151934 Yang W, et al., A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. J Neurosci. 2009 Aug 12;29(32):10072-80
All:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory