Lig4^tiny
Chemically induced Allele Detail

Summary

• Symbol: Lig4^tiny
• Name: ligase IV, DNA, ATP-dependent; tiny
• MGI ID: MGI:3714783
• Synonyms: ENU4AT:013, Lig4^Y288C
• Gene: Lig4 Location: Chr8:10020020-10027680 bp, - strand Genetic Position: Chr8, 4.52 cM
• Alliance: Lig4^tiny page

Mutation origin

• Strain of Origin: C57BL/6JSfdAnu
• Project Collection: APF ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This mutation, identified in an ENU mutagenesis screen for immunologic mutants, has been identified as an A-to-G transition in exon 2, at nucleotide position 1161 of the cDNA sequence (transcript Lig4-201; ENSMUST00000095476). This results in replacement of tyrosine by cysteine at amino acid position 288 (Y288C) of the protein, which resides in the catalytic domain. Western blot and immunofluorescent analysis of extracts from homozygous mutant mouse embryonic fibroblasts (MEFs) reveal 5-fold reduction in the protein level. Although the mutant protein complexes stably with XRCC4, in vivo adenylation activity is reduced 10-fold in mutant versus wild-type MEFs. (J:122725)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	51 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Lig4 Mutation: 46 strains or lines available

References

• Original: J:104190 The Australian Phenomics Facility at The Australian National University, Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University. MGI Direct Data Submission. 2006-2014
• All: 7 reference(s)