Lig4^tiny

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Species

Mus musculus

Symbol

Lig4^tiny

Category

allele

Allele of gene

Lig4

Transgenic Constructs

None

Synonyms

• ENU4AT:013
• Lig4^Y288C

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations