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| Nomenclature |
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Symbol:
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Nbntm2.1Jpt
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Name:
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nibrin;
targeted mutation 2.1, John H Petrini
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MGI ID: |
MGI:3771078 |
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Synonyms: |
Nbs1deltaC |
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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:129762
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Parent Cell Line:
| AC1 (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: A floxed neo cassette was inserted into intron 14 and additional loxP site was inserted into intron 15. Cre mediated recombination was used to remove the neo cassette and exon 15. The protein product lacks the last 24 amino acids that contains the ATM binding domain. The presence of a shortened protein product was confirmed by western blot analysis on extracts from mouse embryonic fibroblasts. (J:129762)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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:129762
Stracker TH et al.,
"The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex."
Nature 2007 May 10;447(7141):218-21
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All: |
3 reference(s)
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