Nlgn1^em1Taku
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nlgn1^em1Taku
• Name: neuroligin 1; endonuclease-mediated mutation 1, Toru Takumi
• MGI ID: MGI:6400993
• Synonyms: P89L
• Gene: Nlgn1 Location: Chr3:25480379-26386609 bp, - strand Genetic Position: Chr3, 10.38 cM, cytoband A3
• Alliance: Nlgn1^em1Taku page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a CCA to CTA change at residue 89 resulting in an amino acid substitution from proline to leucine. Western blot analysis confirmed expression of the protein, with a 30% reduction on the mutant protein expression in heterozygotes and 60% reduction in homozygotes. The P89L mutation recapitulates mutations found in two brothers with autism spectrum disorder. (J:247060)

Disease models

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 Nlgn1 Mutation: 66 strains or lines available

References

• Original: J:247060 Nakanishi M, et al., Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet. 2017 Aug;13(8):e1006940
• All: 1 reference(s)