Pcsk9^m1Bms
Chemically induced Allele Detail

Summary

• Symbol: Pcsk9^m1Bms
• Name: proprotein convertase subtilisin/kexin type 9; mutation 1, Bristol Myers Squibb
• MGI ID: MGI:5516591
• Synonyms: PCSK9-Y119X
• Gene: Pcsk9 Location: Chr4:106299531-106321522 bp, - strand Genetic Position: Chr4, 49.67 cM
• Alliance: Pcsk9^m1Bms page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a point mutation that results in the amino acid substitution of a termination codon for tyrosine at position 119 (Y119X). The absence of protein expression was confirmed in the liver and plasma. (J:200728)

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 Pcsk9 Mutation: 46 strains or lines available

References

• Original: J:200728 Parker RA, et al., Bile acid and sterol metabolism with combined HMG-CoA reductase and PCSK9 suppression. J Lipid Res. 2013 Sep;54(9):2400-9
• All: 1 reference(s)