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Targeted Allele Detail
Symbol: Nbntm1.1Md
Name: nibrin; targeted mutation 1.1, Martin Digweed
MGI ID: MGI:3505757
Synonyms: Nbndelta6
Gene: Nbn  Location: Chr4:15957925-15992589 bp, + strand  Genetic Position: Chr4, 6.66 cM, cytoband A
Germline Transmission:  Earliest citation of germline transmission: J:93598
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsA targeting vector was designed to flank exon 6 with loxP sites and to insert a floxed neo in intron 5. Cre expression excised the region containing the neo and exon 6. RT-PCR analysis indicated the presence of a shorter transcript consistent with the expected loss of sequence from the deleted exon. (J:93598)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:93598 Demuth I, et al., An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet. 2004 Oct 15;13(20):2385-97
All:  1 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