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Lig4tm2.1Fwa
Targeted Allele Detail
Nomenclature
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: Chr8:10020020-10027680 bp, - strand  Genetic Position: Chr8, 4.52 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:157574
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
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:  30 strains or lines available
References
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory