About   Help   FAQ
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
Loading...
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory