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Targeted Allele Detail
Symbol: Shank3tm4.1Gfng
Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 4.1, Guoping Feng
MGI ID: MGI:5775645
Synonyms: R1117X
Gene: Shank3  Location: Chr15:89499623-89560261 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 (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe targeting vector was designed to alter exon 21 by changing the DNA sequence of codon 1117 from CGG-to-TGA (arginine-to-stop codon) resulting in a truncated 122 kDa protein. A loxP-flanked PGK-neo-pA cassette was also inserted downstream of the mutant stop codon. Cre-mediated recombination removed the floxed neo cassette. This non-sense mutation was first identified in three brothers diagnosed with schizophrenia/schizoaffective disorder between ages 16 and 21 (also with mild-to-moderate mental retardation) without showing obvious autistic features during their childhood. (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:  14 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)
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last database update
MGI 6.16
The Jackson Laboratory