Stap1^em1Jaku
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stap1^em1Jaku
• Name: signal transducing adaptor family member 1; endonuclease-mediated mutation 1, Jan Albert Kuivenhoven
• MGI ID: MGI:6451099
• Gene: Stap1 Location: Chr5:86219446-86251859 bp, + strand Genetic Position: Chr5, 43.56 cM, cytoband E1
• Alliance: Stap1^em1Jaku page

Mutation origin

• Strain of Origin: FVB

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 5 bp (CTTAC) deletion in exon 3 introducing a premature stop codon at position Ser81. Western blot analysis confirmed absence of protein. (J:292412)

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 Stap1 Mutation: 13 strains or lines available

References

• Original: J:292412 Loaiza N, et al., Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans. Arterioscler Thromb Vasc Biol. 2020 Apr;40(4):973-985
• All: 1 reference(s)