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| Nomenclature |
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Symbol:
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Tg(Prnp*A116V*M128V)1309Jama
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Name:
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transgene insertion 1309, James A Mastrianni
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MGI ID: |
MGI:4356192 |
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Synonyms: |
Tg(A116V) |
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Transgene:
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Tg(Prnp*A116V*M128V)1309Jama
Location:
unknown
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Transgene
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:151934
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: Nucleotide 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
