Shank3^tm1.2Bux
Targeted Allele Detail

Summary

• Symbol: Shank3^tm1.2Bux
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1.2, Joseph D Buxbaum
• MGI ID: MGI:5285394
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm1.2Bux page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175320
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 4 and an FRT flanked neo cassette and second loxP site were inserted downstream of exon 9 via homologous recombination. Flp mediated recombination removed the neo cassette. Cre mediated recombination removed exons 4 - 9. Quantitative PCR and immunoblot analysis confirmed the absence of mRNA and protein expression in homozygous mice. (J:175320)

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Shank3 Mutation: 77 strains or lines available

References

• Original: J:175320 Bozdagi O, et al., Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism. 2010;1(1):15
• All: 12 reference(s)