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| Nomenclature |
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Symbol:
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Prnptm1Edin
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Name:
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prion protein;
targeted mutation 1, Edinburgh University
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MGI ID: |
MGI:1934274 |
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Synonyms: |
101LL, Prnpa101L, Rcm0 |
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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:58820
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A point mutation was introduced into exon 3 that altered the sequence encoding amino acid 101 from one that encodes a proline to one that encodes a leucine. This residue is equivalent to amino acid 102 in humans, and the mutation is associated with Gerstmann-Straussler syndrome. A full length mRNA is expressed from this allele at similar levels to wild-type. Western blot analysis from brain homogenates detected a slight reduction in the amount of total protein in homozygous mutant mice as compared to wild type. (J:29021)
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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:58820
Manson JC et al.,
"A single amino acid alteration (101L) introduced into murine PrP dramatically alters incubation time of transmissible spongiform encephalopathy."
EMBO J 1999 Dec 1;18(23):6855-64
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All: |
11 reference(s)
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Analysis Tools
