Allele/Variant

Pcsk2tm1Dfs

Species
Mus musculus
Symbol
Pcsk2tm1Dfs
Category
allele
Allele of gene
Pcsk2
Transgenic Constructs
None
Synonyms
  • PC2-
  • PC2KO
Description
A neomycin resistance cassette was inserted into exon 3, which encodes the activation site at the junction of the propeptide and mature enzyme. RT-PCR experiments demonstrated that exon 3 was absent from transcripts produced from this allele, but Western blot analysis revealed the presence of a truncated protein of a size predicted by this mutation. However, no mature processed protein was detected and there was no evidence of enzyme activity in homozygous mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations