Mouse Strain information
APB ID 82
Added 28/04/2004
Last Edited 10/05/2014
Strain name: STOCK Lig4tiny/AnuApb
Nickname: Tiny, ENU4AT:013
Strain designation name: STOCK Lig4tiny/AnuApb
Genetics
Strain Types Mutant strain
Coisogenic
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: ligase IV, DNA, ATP-dependent  
Chromosome 8
Affected Gene Symbol Lig4
Protein expression of altered gene: Reduced
Genetic alteration of gene: ENU induced mutation. Mutation resides in the catalytic domain
Location on chromosome (bp): 9970020-9976323 bp, - strand (From NCBI annotation of NCBI Build 37)
MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:1335098
Synonyms DNA ligase IV, ligase IV
Allele Name tiny
Allele Symbol Lig4tiny
MGI Allele Accession ID MGI:3714783
Ensembl Gene ID: ENSMUSG00000049717
Transcript ID: ENSMUST00000095476
Transcript name: Lig4-201
bp change: A to G at position 1161 on cDNA
Exon number: 2
Exon ID: ENSMUSE00000610685
cDNA position: 1161
Amino acid change: Tyrosine to Cysteine at position 288
Sequence:
1131GCATGCAGATGCACAAAGATGGCGCGCTGTACCGGTACTTCTCCAGAAACGGTTACAACTAcDNA (reverse strand)
278R--M--Q--M--H--K--D--G--A--L--Y--R--Y--F--S--R--N--G--Y--N--Yprotein
Version: NCBI m37, Ensembl build 55
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Animal model for human LIGIV Syndrome. Small stature. Severe combined immune deficiency. Hypogammaglobulinemia, no antibody response to immunization, very few circulating B or T cells. Hemopoiesis defect. Hypoplastic anemia, hemopoietic stem cells unable to transplant, poorly proliferative in tissue culture, unable to compete with transplanted wild-type hemopoietic stem cells even in the absence of any conditioning regime. Non-homologous end-joining DNA repair defect. Reduced DNA ligase IV protein levels and enzymatic activity. 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.
Original Genetic Background C57BL/6JSfdAnu x C57BR x C57BL/10
Genetic Background Currently Maintained C57BL/6JSfdAnu
Coat Colour Black
Strain Images
Physical size of Lig4 mutant with wildtype littermate
Physical size of Lig4 mutant with wildtype littermate
Lig4 mutation impairs maintenance of adult haemopoietic stem cells
Lig4 mutation impairs maintenance of adult haemopoietic stem cells
Strain identification
How is this strain characterised? Genotyping
PCR protocols Tiny (amplifluor)
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
Strain Specific References
Other Related References
General information
Associated IP rights? No
Does it Model a Human Condition? Yes
Research value of this Strain First viable model of human LigIV deficiency
Applicable Research Areas Haematology
Models for human disease
Developmental biology
Immunology and inflammation
Keywords
  • T cell, CD8
  • severe combined immunodeficiency
  • DNA repair
  • ENU
  • Wellcome Trust
Additional Information Discovered by Wellcome Trust immunization and flow cytometry screen by Edyta Kucharska, Shirine Chaudhry and Sara Dawson (JCSMR, ANU). Mutation mapped and identified by Sara Dawson and Anastasia Nijnik. Project guided by Prof Richard Cornall and Prof Chris Goodnow.
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 2 mice)

APB stock genotyped verified by: The APF
Are live mice available? No
MTA needs to be signed? Yes


   

 


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