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Targeted Allele Detail
Symbol: Lig4tm2.1Fwa
Name: ligase IV, DNA, ATP-dependent; targeted mutation 2.1, Frederick W Alt
MGI ID: MGI:4437270
Synonyms: Lig4R
Gene: Lig4  Location: Chr8:9970020-9976323 bp, - strand  Genetic Position: Chr8, 4.52 cM
Germline Transmission:  Earliest citation of germline transmission: J:157574
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA targeting vector, containing the R278H (CGC to CAT) substitution and a floxed neomycin resistance (NeoR) gene, was inserted into the locus. The neo was subsequently removed via cre-mediated recombination. Western-blot analysis, performed on total lysate of thymocytes, showed that the mutant protein was expressed at slightly reduced levels as compared to wild-type. (J:157574)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
Carrying any Lig4 Mutation:  12 strains or lines available
Original:  J:157574 Rucci F, et al., Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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