Pcsk1^em1Irli
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pcsk1^em1Irli
• Name: proprotein convertase subtilisin/kexin type 1; endonuclease-mediated mutation 1, Iris Lindberg
• MGI ID: MGI:6385921
• Synonyms: Pcsk1 N221D
• Gene: Pcsk1 Location: Chr13:75237945-75282980 bp, + strand Genetic Position: Chr13, 40.63 cM, cytoband C2
• Alliance: Pcsk1^em1Irli page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology inserted an A to G nucleotide mutation at position 661 resulting in an asparagine to aspartic acid change at amino acid 221. (J:281760)

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: 53 strains or lines available

References

• Original: J:281760 Jarvela TS, et al., Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D. Endocrinology. 2019 Nov 1;160(11):2630-2645
• All: 1 reference(s)