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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
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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 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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory