Rapsn^em1Gan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rapsn^em1Gan
• Name: receptor-associated protein of the synapse; endonuclease-mediated mutation 1, Lin Gan
• MGI ID: MGI:6389103
• Synonyms: N88K
• Gene: Rapsn Location: Chr2:90865965-90876074 bp, + strand Genetic Position: Chr2, 50.44 cM
• Alliance: Rapsn^em1Gan 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 C to G mutation resulting in an asparagine to lysine change at amino acid 88 (N88K). This mutation corresponds to a variant seen in congenital myasthenic syndrome patients. Western blot analysis showed a comparable level of the mutant protein to wild-type protein levels in the diaphragm. (J:282816)

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 Rapsn Mutation: 31 strains or lines available

References

• Original: J:282816 Xing G, et al., A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome. Elife. 2019 Sep 24;8:e49180
• All: 1 reference(s)