Septin12^em1Haiy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Septin12^em1Haiy
• Name: septin 12; endonuclease-mediated mutation 1, Haiyuan Yu
• MGI ID: MGI:6363494
• Synonyms: Sept12^G169E
• Gene: Septin12 Location: Chr16:4804722-4815716 bp, - strand Genetic Position: Chr16, 2.49 cM, cytoband A1
• Alliance: Septin12^em1Haiy page

Mutation origin

• Strain of Origin: (FVB/NJ x B6(Cg)-Tyr^c-2J/J)F1

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR/Cas9 technology and an sgRNA and an ssODN template oligonucleotide, an allele was created with a GC>AG mutation leading to a p.G167E substitution in the encoded peptide (equivalent to p.G169E in the human ortholog). (J:279291)

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 Septin12 Mutation: 26 strains or lines available

References

• Original: J:279291 Fragoza R, et al., Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nat Commun. 2019 Sep 12;10(1):4141
• All: 1 reference(s)