|
|
| 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 (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: Exons 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
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: |
12 reference(s)
|
|
Analysis Tools
