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Allele : Pcsk2<tm1Dfs> proprotein convertase subtilisin/kexin type 2; targeted mutation 1, Donald Steiner

Primary Identifier  MGI:1857445 Allele Type  Targeted
Attribute String  Null/knockout Gene  Pcsk2
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Pancreatic Neuroendocrine Tumors J:236511.
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • PC2KO,
  • PC2KO,
  • SPC2-,
  • SPC2-,
  • PC2-,
  • PC2-
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

37 Publication categories