Rad50^tm4Jpt
Targeted Allele Detail

Summary

• Symbol: Rad50^tm4Jpt
• Name: RAD50 double strand break repair protein; targeted mutation 4, John H J Petrini
• MGI ID: MGI:5614068
• Synonyms: Rad50^Neo46
• Gene: Rad50 Location: Chr11:53540346-53598146 bp, - strand Genetic Position: Chr11, 31.98 cM, cytoband A5-B1
• Alliance: Rad50^tm4Jpt 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 details: Nucleotide substitutions were introduced in exon 13, resulting in two amino acid substitution (p.S679R and p.P682E) in the Hook domain of the encoded peptide. A loxP site flanked neomycin resistance gene cassette was inserted into intron 13. The amino acid substitutions introduce charged residues in the vicinity of the cysteines that coordinate zinc and results in a hypomorphic allele. Presence of the neo cassette reduced expression of the mutant gene. (J:209141)

Expression

In Structures Affected by this Mutation:

1 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 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)