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Lig4tiny
Chemically induced Allele Detail
Nomenclature
Symbol: Lig4tiny
Name: ligase IV, DNA, ATP-dependent; tiny
MGI ID: MGI:3714783
Synonyms: ENU4AT:013, Lig4Y288C
Gene: Lig4  Location: Chr8:9970020-9976323 bp, - strand  Genetic Position: Chr8, 4.52 cM
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 detailsThis 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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Lig4 Mutation:  12 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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory