Shank3^tm1Cmpl
Targeted Allele Detail

Summary

• Symbol: Shank3^tm1Cmpl
• Name: SH3 and multiple ankyrin repeat domains 3; targeted mutation 1, Craig M Powell
• MGI ID: MGI:5788281
• Synonyms: Shank3^G
• Gene: Shank3 Location: Chr15:89383826-89444464 bp, + strand Genetic Position: Chr15, 44.96 cM
• Alliance: Shank3^tm1Cmpl page

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 details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 85 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: 3 reference(s)