Allele/Variant

Prnptm1Edin

Species
Mus musculus
Symbol
Prnptm1Edin
Category
allele
Allele of gene
Prnp
Transgenic Constructs
None
Synonyms
  • 101LL
  • Prnpa101L
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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