Lig4^tm2.1Fwa
Targeted Allele Detail

Summary

• Symbol: Lig4^tm2.1Fwa
• Name: ligase IV, DNA, ATP-dependent; targeted mutation 2.1, Frederick W Alt
• MGI ID: MGI:4437270
• Synonyms: Lig4^R
• Gene: Lig4 Location: Chr8:10020020-10027680 bp, - strand Genetic Position: Chr8, 4.52 cM
• Alliance: Lig4^tm2.1Fwa page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 44 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)