Cttnbp2^em3Yph
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cttnbp2^em3Yph
• Name: cortactin binding protein 2; endonuclease-mediated mutation 3, Yi-Ping Hsueh
• MGI ID: MGI:6761318
• Synonyms: M120I
• Gene: Cttnbp2 Location: Chr6:18366477-18514842 bp, - strand Genetic Position: Chr6, 8.12 cM
• Alliance: Cttnbp2^em3Yph page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in a methionine to isoleucine substitution at residue 120 (M120I) in exon 4. In addition, a C to T change was introduced to modify the upstream Pstl site. M120I is an autism spectrum disorder-linked mutation found in humans. (J:310040)

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 Cttnbp2 Mutation: 93 strains or lines available

References

• Original: J:310040 Shih PY, et al., Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms. Acta Neuropathol Commun. 2020 Nov 9;8(1):185
• All: 2 reference(s)