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| Nomenclature |
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Symbol:
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Prnptm2Lnq
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Name:
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prion protein;
targeted mutation 2, Susan Lindquist
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MGI ID: |
MGI:4412099 |
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Synonyms: |
PrP3F4FFI |
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Gene:
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Prnp
Location:
Chr2:131909928-131938429 bp, + strand
Genetic Position: Chr2,
64.07 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:154937
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: The third exon was replaced with an HPRT mini gene that was then replaced with a representative sequence containing two amino acid substitutions found in the human sequence (L108M and V111M). These substitutions allow for transmission barrier against mouse scrapies and immunoreactivity to the 3F4 antibody. A third mutation (D177N) mimicks the mutation associated with human fatal familial insominia. (J:154937)
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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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Carrying any Prnp Mutation:
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71 strains or lines available |
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| References |
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Original: |
J:154937
Jackson WS et al.,
"Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice."
Neuron 2009 Aug 27;63(4):438-50
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All: |
1 reference(s)
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Analysis Tools
