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Genomic Analysis of Variation in Hindlimb Musculature of Mice from the C57BL/6J and DBA/2J Lineage
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, The Linnaeus Centre for Bioinformatics.ORCID iD: 0000-0002-2722-5264
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2010 (English)In: Journal of Heredity, ISSN 0022-1503, E-ISSN 1465-7333, Vol. 101, no 3, 360-367 p.Article in journal (Refereed) Published
Abstract [en]

The precise locations of attachment points of muscle to bone-the origin and insertion sites-are crucial anatomical and functional characteristics that influence locomotor performance. Mechanisms that control the development of these interactions between muscle, tendon, and bone are currently not well understood. In a subset of BXD recombinant inbred (RI) strains derived from the C57BL/6J and DBA/2J strains, we observed a soleus femoral attachment anomaly (SFAA) that was rare in both parental strains (Lionikas, Glover et al. 2006). The aim of the present study was to assess suitability of SFAA as a model to study the genetic mechanisms underlying variation in musculoskeletal anatomy. We scored the incidence of SFAA in 55 BXD strains (n = 9 to 136, median = 26, phenotyped animals per strain, for a total number of 2367). Seven strains (BXD1, 12, 38, 43, 48, 54, and 56) exhibited a high incidence of unilateral SFAA (47-89%), whereas 23 strains scored 0%. Exploration of the mechanisms underlying SFAA in 2 high incidence strains, BXD1 and BXD38, indicated that SFAA-relevant genes are to be found in both C57BL/6J and DBA/2J regions of the BXD1 genome. However, not all alleles relevant for the expression of the phenotype were shared between the 2 high-incidence BXD strains. In conclusion, the anatomical origin of the soleus muscle in mouse is controlled by a polygenic system. A panel of BXD RI strains is a useful tool in exploring the genetic mechanisms underlying SFAA and improving our understanding of musculoskeletal development.

Place, publisher, year, edition, pages
2010. Vol. 101, no 3, 360-367 p.
Keyword [en]
mouse, musculoskeletal, recombinant inbred strains
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-147432DOI: 10.1093/jhered/esq023ISI: 000276747000012PubMedID: 20233743OAI: oai:DiVA.org:uu-147432DiVA: diva2:400429
Available from: 2011-02-25 Created: 2011-02-25 Last updated: 2016-05-18

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Carlborg, Örjan
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