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Rapsnem1Gan
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Rapsnem1Gan
Name: receptor-associated protein of the synapse; endonuclease-mediated mutation 1, Lin Gan
MGI ID: MGI:6389103
Synonyms: N88K
Gene: Rapsn  Location: Chr2:91035620-91045729 bp, + strand  Genetic Position: Chr2, 50.44 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  22 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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory