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Allele : Prkcg<em1Jpka> protein kinase C, gamma; endonuclease-mediated mutation 1, Josef P Kapfhammer

Primary Identifier  MGI:6865661 Allele Type  Endonuclease-mediated
Attribute String  Constitutively active Gene  Prkcg
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a C to A change at position 27 (c.71C>A) resulting in an alanine to glutamate substitution at amino acid 24 (p.A24E). In addition, a G to A change at position 78 (c.78G>A) that does not change the amino acid (p.R26R) was introduced to prevent the donor DNA from being a suitable target for cas9 cleavage. The A24E mutation keeps PKC gamma in a constitutive active open conformation. mRNA expression is comparable to wild-type but protein is strongly reduced in homozygotes. Cycloheximide trace assay shows increased protein degradation in these mice. Heterozygotes and homozygotes show increased PKC kinase activity despite decreased protein levels.
  • mutations:
  • Single point mutation
  • synonyms:
  • PKCgamma-A24E,
  • PKCgamma-A24E
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele