Nrxn1^em1Amcr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nrxn1^em1Amcr
• Name: neurexin I; endonuclease-mediated mutation 1, Ann Craig
• MGI ID: MGI:7622045
• Synonyms: Nrxn1^deltaS5
• Gene: Nrxn1 Location: Chr17:90341059-91400499 bp, - strand Genetic Position: Chr17, 59.73 cM
• Alliance: Nrxn1^em1Amcr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: The exon 22 alternative splice donor site was modified by changing sequence GGTGgGtTAGgT to GGTGaGcTAGcT. The mutations abolish the downstream alternative splice site (G-GT), as well as the cryptic splice site (G-GT) 5' from that, at splice site S5, while maintaining the upstream alternative splice site (G-GT). The loss of the alternative splice site causes the loss of a serine residue to which heparan sulfate (HS) can potentially be attached. (J:338373)

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 Nrxn1 Mutation: 102 strains or lines available

References

• Original: J:338373 Lu H, et al., Alternative splicing and heparan sulfation converge on neurexin-1 to control glutamatergic transmission and autism-related behaviors. Cell Rep. 2023 Jun 27;42(7):112714
• All: 1 reference(s)