Nbn^tm1Jpt
Targeted Allele Detail

Summary

• Symbol: Nbn^tm1Jpt
• Name: nibrin; targeted mutation 1, John H J Petrini
• MGI ID: MGI:2183796
• Synonyms: Nbs1^deltaB
• Gene: Nbn Location: Chr4:15957925-15992589 bp, + strand Genetic Position: Chr4, 6.66 cM, cytoband A
• Alliance: Nbn^tm1Jpt page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:75956
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 4 and 5 were replaced with a floxed PGK-neo cassette via homologous recombination resulting in the deletion of the BRCT domain. An 80 kDa protein was expressed from the mutant allele as a result of a start codon originating in the PGK-neo cassette and splicing from intron 5 to exon 6. The mutant protein lacks the FHA and BRCT domains and retains Mre11a-binding activity. (J:75956)

Disease models

Tumor Data

List all tumor models in MMHCdb carrying Nbn^tm1Jpt

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nbn Mutation: 59 strains or lines available

References

• Original: J:75956 Williams BR, et al., A murine model of nijmegen breakage syndrome. Curr Biol. 2002 Apr 16;12(8):648-53
• All: 20 reference(s)