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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:75272
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  42 strains or lines available
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)
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last database update
MGI 6.19
The Jackson Laboratory