Cttnbp2^em2Yph
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cttnbp2^em2Yph
• Name: cortactin binding protein 2; endonuclease-mediated mutation 2, Yi-Ping Hsueh
• MGI ID: MGI:6694206
• Synonyms: R533*
• Gene: Cttnbp2 Location: Chr6:18366477-18514842 bp, - strand Genetic Position: Chr6, 8.12 cM
• Alliance: Cttnbp2^em2Yph page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology changed two nucleotides (T to A produces the stop codon, while a C to T change seven bp upstream affects the XmaI site) to alter the coding sequences of arginine to a stop codon at residue 533 (R533*) in exon 4. This mutation corresponds to the autism spectrum disorder-linked R536* mutation in patients. (J:300704)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:300704 Shih PY, et al., CTTNBP2 Controls Synaptic Expression of Zinc-Related Autism-Associated Proteins and Regulates Synapse Formation and Autism-like Behaviors. Cell Rep. 2020 Jun 2;31(9):107700
• All: 1 reference(s)