Shank3^tm4.1Gfng
Targeted Allele Detail

Summary

• Symbol: Shank3^tm4.1Gfng
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 4.1, Guoping Feng
• MGI ID: MGI:5775645
• Synonyms: R1117X
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm4.1Gfng page

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 details: The 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)

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: 79 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: 2 reference(s)