Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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 Alliance: Nhej1tm1Fwa page

Small body size, absence of thymus, and small spleen in Paxxem1Spj/Paxxem1Spj Nhej1tm1Fwa/Nhej1tm1Fwa mice Show the 5 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:138774
Parent Cell Line:	TC1/TC-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	55 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Nhej1 Mutation:	14 strains or lines available

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)