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| Nomenclature |
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Symbol:
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Nbntm1Xu
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Name:
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nibrin;
targeted mutation 1, Yang Xu
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MGI ID: |
MGI:2182645 |
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Synonyms: |
NBS1m/m |
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Gene:
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Nbn
Location:
Chr4:15957925-15992589 bp, + strand
Genetic Position: Chr4,
6.66 cM, cytoband A
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:75272
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Nbn Mutation:
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14 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
