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| Nomenclature |
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Symbol:
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Nbntm1.1Md
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Name:
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nibrin;
targeted mutation 1.1, Martin Digweed
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MGI ID: |
MGI:3505757 |
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Synonyms: |
Nbndelta6 |
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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:93598
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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 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)
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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: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
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All: |
1 reference(s)
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Analysis Tools
