Strain-specific copy number variation in the intelectin locus on the 129 mouse chromosome 1
2011

Study of the Itln Gene Locus in 129S7 Mice

publication Evidence: moderate

Author Information

Author(s): Lu Zen H, di Domenico Alex, Wright Steven H, Knight Pamela A, Whitelaw C Bruce A, Pemberton Alan D

Primary Institution: The Roslin Institute and Royal (Dick) School of Veterinary Sciences, University of Edinburgh

Hypothesis

The study aims to sequence and characterize the Itln locus in the 129S7 mouse strain to understand its chromosomal expansion.

Conclusion

The Itln locus in 129S7 mice contains six distinct Itln genes, which likely contribute to functional differences compared to C57BL/6J mice.

Supporting Evidence

  • The Itln locus in 129S7 mice is approximately 433 kbp larger than in C57BL/6J mice.
  • Six distinct Itln genes and several related pseudogenes were identified in the 129S7 strain.
  • Strong evidence for tissue-specific distribution of Itln variants was found.

Takeaway

This study looked at a specific part of mouse DNA to see how many copies of a gene exist, finding that some mice have more copies than others, which might affect how they respond to infections.

Methodology

The study sequenced six 129S7 BAC clones to generate a 600 kbp chromosomal sequence of the Itln locus.

Limitations

The study acknowledges gaps in the assembly and potential errors due to the mixed strains used in the reference genome.

Digital Object Identifier (DOI)

10.1186/1471-2164-12-110

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