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Nbntm1Xu
Targeted Allele Detail
Summary
Symbol: Nbntm1Xu
Name: nibrin; targeted mutation 1, Yang Xu
MGI ID: MGI:2182645
Synonyms: NBS1m/m
Gene: Nbn  Location: Chr4:15957925-15992589 bp, + strand  Genetic Position: Chr4, 6.66 cM, cytoband A
Alliance: Nbntm1Xu 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Nbntm1Xu
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)
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
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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory