Mouse Models
AOA2/SCAN2/SCAR1
Publication
Setx-/-
Identification
- Causal gene(s)
- SETX
- Repeat size or mutation
- Homozygous Setx knock-out mice
- Animal model
- Mouse
Model Details
- Mouse strain / background
- C57BL6 and 129Sv
- Type of model
- knockout
Transgenic Construct
- Transgenic construct: sequence type
- A Cre-LoxP system was used to delete exon 4 of the Setx gene.
- Transgenic construct: details
- A Neo cassette with a LoxP site was inserted into a BAC clone corresponding to mouse chromosome 2 and the Setx genomic sequence. These were transfected in ES cells and Neo+ cells were selected. Neo cassette was excised by crossing with a Cre deleter strain to generate the Setx-/- mice
Phenotype
- Hallmark features
- No phenotype related to AOA2, more DNA double-strand breaks, defect in disassembly of Rad51 filaments, accumulation of DNA/RNA hybrids (R loops), failure of crossing-over
Source & Publications
- Originating lab / institution
- University of Queensland
- Links to publications or public resources
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