About   Help   FAQ
Targeted Allele Detail
Symbol: Shank3tm3.1Gfng
Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 3.1, Guoping Feng
MGI ID: MGI:5775620
Synonyms: InsG3680
Gene: Shank3  Location: Chr15:89499705-89560261 bp, + strand  Genetic Position: Chr15, 44.96 cM
Germline Transmission:  Earliest citation of germline transmission: J:230887
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Single point mutation
Mutation detailsThe allele was designed to alter exon 21 by inserting a single guanine nucleotide at cDNA position 3680; causing a frameshift and downstream stop codon. A loxP-flanked PGK-neo-pA cassette was also inserted downstream of the mutant stop codon. Cre-mediated recombination removed the floxed neo cassette. The mutation was first identified in two brothers diagnosed with autism spectrum disorder (ASD) accompanied by severe mental retardation. Antibodies to both the N and C terminus do not detect protein in striatal tissue. (J:230887)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  16 strains or lines available
Original:  J:230887 Zhou Y, et al., Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects. Neuron. 2016 Jan 6;89(1):147-62
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.14
The Jackson Laboratory