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| Nomenclature |
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Symbol:
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Lig4tiny
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Name:
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ligase IV, DNA, ATP-dependent;
tiny
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MGI ID: |
MGI:3714783 |
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Synonyms: |
ENU4AT:013, Lig4Y288C |
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Gene:
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Lig4
Location:
Chr8:9970020-9976323 bp, - strand
Genetic Position: Chr8,
4.52 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6JApb
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This mutation, identified in an ENU mutagenesis screen for immunologic mutants, comprises the substitution of guanine for adenine at nt position 1067 of the cDNA sequence. This results in replacement of tyrosine by cysteine at amino acid position 288 (Y288C), 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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 2006-2010;():
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All: |
3 reference(s)
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Analysis Tools
