Rapsn^em1Gan

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Species

Mus musculus

Symbol

Rapsn^em1Gan

Category

allele

Allele of gene

Rapsn

Transgenic Constructs

None

Synonyms

• N88K

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations