Prkcg^em1Jpka
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prkcg^em1Jpka
• Name: protein kinase C, gamma; endonuclease-mediated mutation 1, Josef P Kapfhammer
• MGI ID: MGI:6865661
• Synonyms: PKCgamma-A24E
• Gene: Prkcg Location: Chr7:3352038-3379615 bp, + strand Genetic Position: Chr7, 1.93 cM
• Alliance: Prkcg^em1Jpka page

Mutation origin

• Strain of Origin: FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Constitutively active)
• Mutation: Single point mutation
• Mutation details: 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. (J:305637)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Prkcg Mutation: 42 strains or lines available

References

• Original: J:305637 Shimobayashi E, et al., A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCgamma Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior. J Neurosci. 2021 Mar 3;41(9):2053-2068
• All: 1 reference(s)