Nbn^tm1Xu
Targeted Allele Detail

Summary

• Symbol: Nbn^tm1Xu
• Name: nibrin; targeted mutation 1, Yang Xu
• MGI ID: MGI:2182645
• Synonyms: NBS1^m/m
• Gene: Nbn Location: Chr4:15957925-15992589 bp, + strand Genetic Position: Chr4, 6.66 cM, cytoband A
• Alliance: Nbn^tm1Xu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:75272
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 and 3 encoding amino acids 12-194 were replaced with a PGK-neo cassette via homologous recombination. RT-PCR analysis of mouse embryonic fibroblasts (MEFs) from homozygous mutant animals using primers 5' of exon 2 and 3' of exon 3 detected low levels of truncated mRNA resulting from the splicing of exon 1 to exon 4, and sequencing of the product confirmed the deletion of exons 2 and 3. Western blot analysis of MEFs from homozygous mutants detected low levels of truncated protein product. (J:75272)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Nbn^tm1Xu

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 Nbn Mutation: 60 strains or lines available

References

• Original: J:75272 Kang J, et al., Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J. 2002 Mar 15;21(6):1447-55
• All: 4 reference(s)