Syngap1^em2Rlh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Syngap1^em2Rlh
• Name: synaptic Ras GTPase activating protein 1 homolog (rat); endonuclease-mediated mutation 2, Richard Huganir
• MGI ID: MGI:7514998
• Synonyms: Syngap1^c.3583-9GA>
• Gene: Syngap1 Location: Chr17:27160227-27191408 bp, + strand Genetic Position: Chr17, 13.6 cM
• Alliance: Syngap1^em2Rlh page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to create a single base substitution at c.3583-9 (G to A) that creates a cryptic splice acceptor site and premature stop codon in intron 16. The aberrant splicing results in a 7 base pair addition within mRNA transcripts.The mutation was confirmed by sequencing and Southern blot. (J:341855)

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 Syngap1 Mutation: 49 strains or lines available

References

• Original: J:341855 Araki Y, et al., Mouse models of SYNGAP1-related intellectual disability. Proc Natl Acad Sci U S A. 2023 Sep 12;120(37):e2308891120
• All: 1 reference(s)