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Analysis of microsatellite polymorphism in inbred knockout mice
Baofen Zuo1, Xiaoyan Du, Jing Zhao
1Department of Laboratory Animal Science, School of Basic Medical Science, Capital Medical University, Beijing, China.
Plos One
|April 18, 2012
Summary
Gene knockout mouse strains exhibit microsatellite polymorphisms, indicating changes from monomorphism to polymorphism (CMP) in specific loci. These findings highlight genetic instability in KO mice, particularly with dinucleotide repeat motifs.
Area of Science:
- Genetics
- Molecular Biology
- Genomics
Background:
- Previous research identified genotype changes from monomorphism to polymorphism (CMP) in 42 of 198 mouse microsatellite loci in a genetically modified strain.
- Gene knockout (KO) mouse models are crucial for studying gene function, but their genetic stability requires thorough investigation.
Purpose of the Study:
- To investigate whether changes from monomorphism to polymorphism (CMP) are also associated with homologous recombination in gene knockout (KO) mouse strains.
- To characterize the types and frequency of microsatellite polymorphisms in KO mouse strains.
Main Methods:
- Analysis of 42 specific microsatellite loci across 29 different gene knockout (KO) inbred mouse strains using polymerase chain reaction (PCR) and short tandem repeat (STR) scanning.
- Direct sequence cloning was employed to confirm and justify observed microsatellite polymorphisms.
- Background control strains (C57BL/6J and 129) were used for comparison.
Main Results:
- 10 out of 42 analyzed loci (23.8%) exhibited CMP in the studied KO mouse strains.
- Dinucleotide repeat motifs, particularly (TG)(n), (GT)(n), and (CA)(n), were frequently associated with CMP.
- Sequence cloning revealed nucleotide insertions in 6 KO strains and a deletion in 1 strain, with some loci showing CMP in multiple strains or simultaneously within a single strain.
Conclusions:
- Microsatellite polymorphisms are present in examined inbred gene knockout (KO) mouse strains.
- The findings suggest potential genetic instability or recombination events occurring in KO mouse models.
- Characterization of these microsatellite changes is important for accurate genetic analysis and interpretation of KO mouse studies.

