Prnp^tm1Edin
Targeted Allele Detail

Summary

• Symbol: Prnp^tm1Edin
• Name: prion protein; targeted mutation 1, Edinburgh University
• MGI ID: MGI:1934274
• Synonyms: 101LL, Prnp^a101L, Rcm0
• Gene: Prnp Location: Chr2:131751848-131780349 bp, + strand Genetic Position: Chr2, 64.07 cM
• Alliance: Prnp^tm1Edin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:58820
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• 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 P101L). 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)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Prnp Mutation: 150 strains or lines available

References

• 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: 14 reference(s)