Shank3^tm2Cmpl
Targeted Allele Detail

Summary

• Symbol: Shank3^tm2Cmpl
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 2, Craig M Powell
• MGI ID: MGI:6437927
• Synonyms: Shank3^E13
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm2Cmpl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289874
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready, Modified isoform(s))
• Mutation: Insertion
• Mutation details: A neomycin resistance and transcriptional STOP cassette flanked by loxP sites was inserted in intron 12 (upstream of the PDZ domain-coding exons). RT-PCR confirmed loss of mRNA expression containing exons 13-19 in the brain. Western blot analysis indicates loss of the two highest molecular weight isoforms. (J:289874)

Disease models

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: 80 strains or lines available

References

• Original: J:289874 Jaramillo TC, et al., Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function. Autism Res. 2017 Jan;10(1):42-65
• All: 2 reference(s)