Shank3^tm1.1Cya
Targeted Allele Detail

Summary

• Symbol: Shank3^tm1.1Cya
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1.1, Cyagen Biosciences
• MGI ID: MGI:6379002
• Synonyms: Shank3^Q321R, Shank3^tm1.1Cgen
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm1.1Cya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:281328
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: A CAG to CGG change in the ankyrin repeat region resulting in a glutamine to arginine mutation at amino acid 321 (Q321R) was introduced into exon 8. In addition, a floxed neomycin resistance gene was inserted upstream of exon 4 and was removed via cre-mediated recombination. Immunoblot analysis shows that that levels of Shank3a, the longest variant, are decreased by about 18% in homozygous brains. Heterozygotes show normal protein levels. This mutation was identified in a human individual with autism spectrum disorder. (J:281328)

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 Shank3 Mutation: 77 strains or lines available

References

• Original: J:281328 Yoo YE, et al., Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility. Front Mol Neurosci. 2019;12:155
• All: 1 reference(s)