Nhej1tm1Fwa
Targeted Allele Detail
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Symbol: |
Nhej1tm1Fwa |
Name: |
non-homologous end joining factor 1; targeted mutation 1, Frederick W Alt |
MGI ID: |
MGI:3809930 |
Synonyms: |
Cernunnos-XLF, Xlf-, XLF, XLFdelta |
Gene: |
Nhej1 Location: Chr1:75006505-75101870 bp, - strand Genetic Position: Chr1, 38.56 cM, cytoband C3
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Alliance: |
Nhej1tm1Fwa page
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Small body size, absence of thymus, and small spleen in Paxxem1Spj/Paxxem1Spj Nhej1tm1Fwa/Nhej1tm1Fwa mice
Show the 5 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:138774
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Parent Cell Line: |
TC1/TC-1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Null/knockout) |
Mutation: |
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Intragenic deletion
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Mutation details: A floxed neomycin selection cassette replaced exons 4 and 5 on allele of the gene locus. Cre recombinase was transiently expressed to remove the neomycin cassette. The same targeting vector was used to target the other allele in this ES cell line and again, cre recombinase was transiently expressed to remove the neo cassette. This targeting strategy could allow for an in-frame splicing event from exon 3 to exon 6 to generate a truncated protein. An antibody to the C-terminal end of the gene product sometimes detected very low levels of the truncated protein in homozygous ES cells. Serial dilution analysis suggests that the level of truncated protein is less than 1% of endogenous levels. Recombinant protein lacking exons 4 and 5 was found to be non-functional in rescuing sensitivity to irradiation.
(J:120145, J:138774)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Nhej1 Mutation: |
16 strains or lines available
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Original: |
J:138774 Li G, et al., Lymphocyte-specific compensation for XLF/cernunnos end-joining functions in V(D)J recombination. Mol Cell. 2008 Sep 5;31(5):631-40 |
All: |
15 reference(s) |
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