Cyfip2^em1Bcgen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cyfip2^em1Bcgen
• Name: cytoplasmic FMR1 interacting protein 2; endonuclease-mediated mutation 1, Biocytogen LLC
• MGI ID: MGI:7482711
• Synonyms: Cyfip2^R87C
• Gene: Cyfip2 Location: Chr11:46084677-46203686 bp, - strand Genetic Position: Chr11, 27.61 cM, cytoband B1.2
• Alliance: Cyfip2^em1Bcgen page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 87 (CGC) was changed to cysteine (TGC) (c.259C>T p.R87C) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.Arg87Cys mutation associated with West syndrome. (J:335442)

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 Cyfip2 Mutation: 61 strains or lines available

References

• Original: J:335442 Kang M, et al., CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2. Ann Neurol. 2023 Jan;93(1):155-163
• All: 1 reference(s)