|
|
| Nomenclature |
|
Symbol:
|
Lig4tm2.1Fwa
|
|
Name:
|
ligase IV, DNA, ATP-dependent;
targeted mutation 2.1, Frederick W Alt
|
|
MGI ID: |
MGI:4437270 |
|
Synonyms: |
Lig4R |
|
Gene:
|
Lig4
Location:
Chr8:9970020-9976323 bp, - strand
Genetic Position: Chr8,
4.52 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:157574
|
|
Parent Cell Line:
| TC1/TC-1 (ES Cell) |
|
Strain of Origin:
|
129S6/SvEvTac
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: A targeting vector, containing the R278H (CGC to CAT) substitution and a floxed neomycin resistance (NeoR) gene, was inserted into the locus. The neo was subsequently removed via cre-mediated recombination. Western-blot analysis, performed on total lysate of thymocytes, showed that the mutant protein was expressed at slightly reduced levels as compared to wild-type. (J:157574)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Lig4 Mutation:
|
10 strains or lines available |
|
| References |
|
Original: |
J:157574
Rucci F et al.,
"Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome."
Proc Natl Acad Sci U S A 2010 Feb 16;107(7):3024-9
|
|
All: |
1 reference(s)
|
|
Analysis Tools
