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Nbntm1Jpt
Targeted Allele Detail
Nomenclature
Symbol: Nbntm1Jpt
Name: nibrin; targeted mutation 1, John H J Petrini
MGI ID: MGI:2183796
Synonyms: Nbs1deltaB
Gene: Nbn  Location: Chr4:15957925-15992589 bp, + strand  Genetic Position: Chr4, 6.66 cM, cytoband A
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75956
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  14 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:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory