|  Help  |  About  |  Contact Us

Allele : Rapsn<em1Gan> receptor-associated protein of the synapse; endonuclease-mediated mutation 1, Lin Gan

Primary Identifier  MGI:6389103 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Rapsn
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • N88K,
  • N88K
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele