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Pklrem1Appsc
Endonuclease-mediated Allele Detail
Summary
Symbol: Pklrem1Appsc
Name: pyruvate kinase liver and red blood cell; endonuclease-mediated mutation 1, Applied StemCell
MGI ID: MGI:7572604
Synonyms: Pklr-, Pklr KO
Gene: Pklr  Location: Chr3:89043449-89054091 bp, + strand  Genetic Position: Chr3, 39.01 cM
Alliance: Pklrem1Appsc page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Modified isoform(s), Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsA single nucleotide (G) was deleted from alternative exon 1 (from MetGlu codons ATGGAA) using sgRNAs (targeting ACAGCAGGTACGCAGCAGTATGG and CAGGTACGCAGCAGTATGGAAGG) and an ssODN template with CRISPR/Cas9 technology. This knockout mutation only affects the transcript encoding the shorter liver-specific L-isozyme, which uses an alternative 1st exon downstream from the longer R-isozyme encoding transcript's exon 1. (J:342736)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Pklr Mutation:  25 strains or lines available
References
Original:  J:342736 Zhang C, et al., Discovery of therapeutic agents targeting PKLR for NAFLD using drug repositioning. EBioMedicine. 2022 Aug 18;83:104214
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
10/29/2024
MGI 6.24
The Jackson Laboratory