Shank3^tm2.1Bux
Targeted Allele Detail

Summary

• Symbol: Shank3^tm2.1Bux
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 3.2, Joseph D Buxbaum
• MGI ID: MGI:6162240
• Synonyms: Shank3^deltaex4-22
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm2.1Bux page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:101977
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: ES cells from Shank3^tm1.1Bux mice were retargeted to carry a third loxP site downstream of exon 22. The allele contains a loxP site inserted upstream of exon 4, a second loxP site inserted downstream of exon 9, and a third loxP site downstream of exon 22. Cre-mediated recombination removed the exons 4-22. (J:175320, J:270363)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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:270363 Drapeau E, et al., Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene. eNeuro. 2018 May-Jun;5(3):ENEURO.0046-18.2018
• All: 4 reference(s)