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Cdk5rap1tm1.2Tomik
Targeted Allele Detail
Summary
Symbol: Cdk5rap1tm1.2Tomik
Name: CDK5 regulatory subunit associated protein 1; targeted mutation 1.2, Kazuhito Tomizawa
MGI ID: MGI:5750452
Gene: Cdk5rap1  Location: Chr2:154177300-154214930 bp, - strand  Genetic Position: Chr2, 76.46 cM, cytoband H2
Alliance: Cdk5rap1tm1.2Tomik page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:220703
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA loxP site was inserted upstream of exon 5 and an FRT flanked neo cassette and loxP site were inserted downstream of exon 6 via homologous recombination. Recombinase mediated recombination removed exons 5-6 and the neo cassette. qPCR analysis of total RNAs isolated from brain, liver, skeletal muscle and heart tissues confirmed the absence of mRNA transcripts in homozygous mutant mice. (J:220703)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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 Cdk5rap1 Mutation:  109 strains or lines available
References
Original:  J:220703 Wei FY, et al., Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans. Cell Metab. 2015 Mar 3;21(3):428-42
All:  2 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