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Targeted Allele Detail
Symbol: Prnptm1Edin
Name: prion protein; targeted mutation 1, Edinburgh University
MGI ID: MGI:1934274
Synonyms: 101LL, Prnpa101L, Rcm0
Gene: Prnp  Location: Chr2:131909928-131938429 bp, + strand  Genetic Position: Chr2, 64.07 cM
Germline Transmission:  Earliest citation of germline transmission: J:58820
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
Carrying any Prnp Mutation:  84 strains or lines available
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
All:  13 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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