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Shank3tm4.1Gfng
Targeted Allele Detail
Nomenclature
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: Chr15:89499705-89560261 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 (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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory