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Rapsnem1Line
Endonuclease-mediated Allele Detail
Summary
Symbol: Rapsnem1Line
Name: receptor-associated protein of the synapse; endonuclease-mediated mutation 1, Lin Mei
MGI ID: MGI:7511609
Synonyms: Rapsn R164H
Gene: Rapsn  Location: Chr2:90865965-90876074 bp, + strand  Genetic Position: Chr2, 50.44 cM
Alliance: Rapsnem1Line page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Not Applicable)
Mutation:    Nucleotide substitutions
 
Mutation detailsArginine codon 164 (CGT) in exon 2 was changed to histidine (CAC) (p.R164H) using an sgRNA (targeting TGCCCAGGCTGCAGCAGACA) and an ssODN template with CRISPR/Cas9 technology. This mutation in the fifth TRP motif inhibits Rapsn LLPS (liquid-liquid phase separation). (J:307397)
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:307397 Xing G, et al., Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. Neuron. 2021 Jun 16;109(12):1963-1978.e5
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
03/18/2025
MGI 6.24
The Jackson Laboratory