Shank3^em1Hzo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Shank3^em1Hzo
• Name: SH3 and multiple ankyrin repeat domains 3; endonuclease-mediated mutation 1, Huda Y Zoghbi
• MGI ID: MGI:6259433
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^em1Hzo page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: A CRISPR/Cas9-generated missense mutation (AGC to ATC; S685I) was introduced to exon 17 of the gene. This corresponds to the human S686I missense mutation found is some individuals with autism spectrum disorder. (J:101977, J:305052)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Shank3 Mutation: 77 strains or lines available

References

• Original: J:305052 Wang L, et al., An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 Oct;25(10):2534-2555
• All: 2 reference(s)