Sf3b2^em1Sqiu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sf3b2^em1Sqiu
• Name: splicing factor 3b, subunit 2; endonuclease-mediated mutation 1, Shenfeng Qiu
• MGI ID: MGI:8166512
• Synonyms: Sf3b2^R491K
• Gene: Sf3b2 Location: Chr19:5323960-5345483 bp, - strand Genetic Position: Chr19, 4.29 cM, cytoband A
• Alliance: Sf3b2^em1Sqiu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGC to AAG change resulting in an arginine to lysine substitution at amino acid 491 (p.R491K) in exon 12. Two synonymous mutations p.C488 (TGT To TGC) and p.K490 (AAG to AAA) were introduced to prevent the binding and re-cutting of the sequence by gRNA after homology-directed repair. p.R491 corresponds to human p.R508 and generates an Sf3b2 arginine methylation-deficient mutant. Homozygotes exhibit a complete loss of PRMT9-mediated arginine methylation without affecting the expression of PRMT9. (J:360860)

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 Sf3b2 Mutation: 27 strains or lines available

References

• Original: J:360860 Shen L, et al., Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing. Nat Commun. 2024 Apr 1;15(1):2809
• All: 1 reference(s)