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Myd88em1.1Rsky
Endonuclease-mediated Allele Detail
Summary
Symbol: Myd88em1.1Rsky
Name: myeloid differentiation primary response gene 88; endonuclease-mediated mutation 1.1, Klaus Rajewsky
MGI ID: MGI:7281146
Synonyms: Myd88L252P, Myd88LP
Gene: Myd88  Location: Chr9:119165000-119169084 bp, - strand  Genetic Position: Chr9, 71.33 cM
Alliance: Myd88em1.1Rsky page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:308792
Parent Cell Line:  ART B6-3, B6-3 (ES Cell)
Strain of Origin:  C57BL/6NTac
Mutation
description
Allele Type:    Endonuclease-mediated (Conditional ready, Reporter)
Mutations:    Insertion, Single point mutation
 
Mutation detailsUsing BAC clones from the RPCIB-731 library and sgRNAs with CRISPR/Cas9 technology, a loxP site plus an extra copy of exon 5 (with a T-to-C mutation changing leucine codon 252 (CTG) to proline (CCG) (p.L252P), and an IRES and the GFP reporter gene after the stop codon), intron 5 and exon 6 was inserted downstream of the gene and a second loxP site was inserted into intron 4. The mutation is the equivalent of the p.L265P mutation, in the TIR domain, found in Waldenstroms macroglobulinemia (WM) and IgM monoclonal gammopathy of undetermined/uncertain significance (IgM MGUS) patients. The mutated exon and the GFP gene will only be expressed after cre-mediated deletion of the floxed endogenous exons 5 and 6. The FRT site flanked neomycin resistance gene cassette that was inserted between the endogenous gene and duplicate exon 5, was removed through subsequent flp-mediated recombination. (J:308792)
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: 2 anatomical structure(s)
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 Myd88 Mutation:  52 strains or lines available
References
Original:  J:308792 Schmidt K, et al., B-Cell-Specific Myd88 L252P Expression Causes a Premalignant Gammopathy Resembling IgM MGUS. Front Immunol. 2020;11:602868
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
11/12/2024
MGI 6.24
The Jackson Laboratory