Shank3^tm1.1Pfw
Targeted Allele Detail

Summary

• Symbol: Shank3^tm1.1Pfw
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1.1, Paul Worley
• MGI ID: MGI:5085999
• Synonyms: Shank3(deltaC), Shank3^tm1.1Bxia, Shank3^TM1NPA
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm1.1Pfw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:198768
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 21. An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of exon 21. Cre-mediated recombination removed exon 21 and the neo cassette. No wild-type protein is detected in homozygous mice but a lower molecular weight mutant protein is detected by western blot analysis. (J:198768, J:204162)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 85 strains or lines available

Notes

The data reported for this allele were originally described in:

Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, Kim J, Kouser M, Schwartz J, Cui Y, Zhao X, Speed HE, Kee SE, Tu JC, Hu JH, Petralia RS, Linden DJ, Powell CM, Savonenko A, Xiao B, Worley PF. Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. Cell. 2011 May 27;145(5):758-72. PMID:21565394.

This paper was retracted; however, the prinicpal investigator has confirmed the validity of the data related to the molecular gene targeting and the phenotypic description of the mutant mice carrying this allele. Please see the retraction notes for further details about the data in the original paper.

References

• Original: J:198768 Worley P, Haploinsufficiency of Shank3 causes Autism-like phenotypes in mice. MGI Direct Data Submission. 2013
• All: 21 reference(s)