About   Help   FAQ
Rad50tm5Jpt
Targeted Allele Detail
Summary
Symbol: Rad50tm5Jpt
Name: RAD50 double strand break repair protein; targeted mutation 5, John H J Petrini
MGI ID: MGI:5614071
Synonyms: Rad50Neo47
Gene: Rad50  Location: Chr11:53540346-53598146 bp, - strand  Genetic Position: Chr11, 31.98 cM, cytoband A5-B1
Alliance: Rad50tm5Jpt page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:209141
Parent Cell Line:  AC1 (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitutions were introduced in exon 13, resulting in an amino acid substitution (p.V683R) in the Hook domain of the encoded peptide. A loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The amino acid substitution introduces a charged residue in the vicinity of the cysteines that coordinate zinc and resulted in a hypomorphic allele. (J:209141)
Inheritance:    Dominant
Phenotypes
Loading...
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 Rad50 Mutation:  53 strains or lines available
References
Original:  J:209141 Roset R, et al., The Rad50 hook domain regulates DNA damage signaling and tumorigenesis. Genes Dev. 2014 Mar 1;28(5):451-62
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory