Syngap1^tm1.1Rumb
Targeted Allele Detail

Summary

• Symbol: Syngap1^tm1.1Rumb
• Name: synaptic Ras GTPase activating protein 1 homolog (rat); targeted mutation 1.1, Gavin Rumbaugh
• MGI ID: MGI:7514372
• Synonyms: Syngap1^PBM
• Gene: Syngap1 Location: Chr17:27160227-27191408 bp, + strand Genetic Position: Chr17, 13.6 cM
• Alliance: Syngap1^tm1.1Rumb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338643
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A floxed neo cassette was inserted in intron 20 and point mutations disrupting the PDZ-binding motif were inserted in exon 21 via homologous recombination. Cre mediated recombination removed the neo cassette. Western blot analysis detected no difference in expression levels compared to the wild-type protein. Co-immunoprecipitation assays confirmed the loss of association between the mutant protein and Dlg4. This modification disrupts the function of the alpha 1 isoform while leaving expression of the other isoforms intact. (J:338643)

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 Syngap1 Mutation: 50 strains or lines available

References

• Original: J:338643 Kilinc M, et al., Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection. Elife. 2022 Apr 8;11:e75707
• All: 1 reference(s)