Pcsk1^em2Irli
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pcsk1^em2Irli
• Name: proprotein convertase subtilisin/kexin type 1; endonuclease-mediated mutation 2, Iris Lindberg
• MGI ID: MGI:7279192
• Synonyms: G209R
• Gene: Pcsk1 Location: Chr13:75237945-75282980 bp, + strand Genetic Position: Chr13, 40.63 cM, cytoband C2
• Alliance: Pcsk1^em2Irli page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a GGA to AGA point mutation resulting in a glycine to arginine missense mutation at amino acid 209 (G209R) in exon 6. (J:324309)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Pcsk1 Mutation: 50 strains or lines available

References

• Original: J:324309 Shakya M, et al., The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy. Endocrinology. 2022 Mar 4
• All: 1 reference(s)