About   Help   FAQ
Shank3tm3.1Gfng
Targeted Allele Detail
Nomenclature
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
Mutation
origin
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+
Mutation
description
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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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:  15 strains or lines available
References
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/12/2019
MGI 6.13
The Jackson Laboratory