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Targeted Allele Detail
Symbol: Shank3tm1.1Pfw
Name: SH3/ankyrin domain gene 3; targeted mutation 1.1, Paul Worley
MGI ID: MGI:5085999
Synonyms: Shank3(deltaC), Shank3tm1.1Bxia
Gene: Shank3  Location: Chr15:89499623-89560261 bp, + strand  Genetic Position: Chr15, 44.96 cM
Germline Transmission:  Earliest citation of germline transmission: J:198768
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  9 strains or lines available
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This paper was retracted; however, the prinicpal investigator has confirmed the validity of the data related to the molecular gene targeting and the phenotypic description of the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.

Original:  J:198768 Worley P, Haploinsufficiency of Shank3 causes Autism-like phenotypes in mice. MGI Direct Data Submission. 2013;
All:  2 reference(s)

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MGI 6.01
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