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Shank3tm1Cmpl
Targeted Allele Detail
Nomenclature
Symbol: Shank3tm1Cmpl
Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Craig M Powell
MGI ID: MGI:5788281
Synonyms: Shank3G
Gene: Shank3  Location: Chr15:89499705-89560261 bp, + strand  Genetic Position: Chr15, 44.96 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:224381
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Modified isoform(s))
Mutation:    Insertion
 
Mutation detailsThe targeting construct introduced upstream of exon 21 a lox P site, modified exon 21 containing an inserted G bp and a neomycin resistance and STOP cassette with a 3' loxP site. The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight isoforms at the synapse. This insertion is present in patients with autism. Cre-mediated recombination is required to remove the modified exon and selection/STOP cassette. (J:224381)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Shank3 Mutation:  15 strains or lines available
References
Original:  J:224381 Speed HE, et al., Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits. J Neurosci. 2015 Jul 1;35(26):9648-65
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory